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Anemia, Aplastic (D000741)
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Bone Marrow Diseases (D001855)
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Hemoglobinuria, Paroxysmal (D006457)
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Bone Marrow failure syndromes (C536572)

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..expandBone 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:BMFS1 |BMFS2 |BMFS3 |Bone marrow failure syndrome 1 |Bone marrow failure syndrome 2 |BONE MARROW FAILURE SYNDROME 3
Slim Mappings:Blood disease
Reference: MedGen: C536572
MeSH: C536572
OMIM: 614675;
MSeqDR LSDB:  
Genes: ERCC6L2; SRP72;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001915Aplastic anemia
3 HP:0005528Bone marrow hypocellularity
4 HP:0000365Hearing impairment
5 HP:0002863Myelodysplasia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006947.4(SRP72):c.-10C>T6731SRP72Uncertain significance-1RCV002466798; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733379257333792NC_000004.11:g.57333792C>T-
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)6731SRP72Uncertain significance1719782337RCV001151984; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457333808573338084:g.57333808A>G-
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)6731SRP72Benign17524437RCV000391775|RCV000962859; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045733382057333820NC_000004.11:g.57333820G>TClinGen:CA2930920C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)6731SRP72Conflicting interpretations of pathogenicity139502866RCV000312195|RCV001850853|RCV001821062; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202|MedGen:CN16937445733382157333821NC_000004.11:g.57333821G>AClinGen:CA2930923C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)6731SRP72Benign/Likely benign139502866RCV000445168|RCV000500157|RCV001151985; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733382157333821NC_000004.11:g.57333821G>CClinGen:CA2930922CN517202 not provided;
NM_006947.4(SRP72):c.21G>T (p.Gly7=)6731SRP72Benign12513091RCV000364512|RCV001518009; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045733382257333822NC_000004.11:g.57333822G>TClinGen:CA2930925C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)6731SRP72Conflicting interpretations of pathogenicity760960779RCV000272329|RCV003258787; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C095012345733382457333824NC_000004.11:g.57333824G>AClinGen:CA2930929C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)6731SRP72Uncertain significance752240949RCV001153246; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457333830573338304:g.57333830C>T-
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)6731SRP72Conflicting interpretations of pathogenicity781230154RCV000325091|RCV001861232; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733383857333838NC_000004.11:g.57333838G>TClinGen:CA2930940C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)6731SRP72Benign/Likely benign111673705RCV000363461|RCV000502255|RCV001498849; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045733385957333859NC_000004.11:g.57333859C>TClinGen:CA2930944C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.110-5T>G6731SRP72Conflicting interpretations of pathogenicity186908289RCV001153247|RCV001759910; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900457335814573358144:g.57335814T>G-
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)6731SRP72Conflicting interpretations of pathogenicity201940585RCV000266588|RCV001355587|RCV001821063|RCV003409552; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900|MedGen:CN169374|45733584257335842NC_000004.11:g.57335842G>AClinGen:CA2930980C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.144G>T (p.Leu48=)6731SRP72Benign/Likely benign112496764RCV000321084|RCV000908697; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045733585357335853NC_000004.11:g.57335853G>TClinGen:CA2930983C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.294G>A (p.Leu98=)6731SRP72Benign145137299RCV000378058|RCV002061246; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733794957337949NC_000004.11:g.57337949G>AClinGen:CA2931030C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)6731SRP72Conflicting interpretations of pathogenicity145817936RCV000281124|RCV001821064|RCV001510023; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045734027157340271NC_000004.11:g.57340271G>AClinGen:CA2931058C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)6731SRP72Uncertain significance772592244RCV001155843; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457340521573405214:g.57340521C>G-
NM_006947.4(SRP72):c.610+35C>T6731SRP72Benign11610RCV001613770|RCV001810120; NMedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:3143994573405925734059257340592-
NM_006947.4(SRP72):c.620G>A (p.Arg207His)6731SRP72Uncertain significance387907189RCV001852568|RCV000024353; NMedGen:CN517202|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457342846573428464:g.57342846G>AOMIM:602122.0002,ClinGen:CA129879,UniProtKB:O76094#VAR_068522C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys)6731SRP72Uncertain significance375436807RCV001817297|RCV001885320|RCV002506848|RCV002542522; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C09501234573428485734284857342848-
NM_006947.4(SRP72):c.623G>A (p.Arg208His)6731SRP72Uncertain significance369761160RCV001987461|RCV002492057|RCV002563426; NMedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C09501234573428495734284957342849-
NM_006947.4(SRP72):c.686A>G (p.His229Arg)6731SRP72Benign138986942RCV000319836|RCV001511218; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045734458857344588NC_000004.11:g.57344588A>GClinGen:CA2931154C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.789A>G (p.Leu263=)6731SRP72Benign77935196RCV000372097|RCV001821065|RCV002057933; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045734477957344779NC_000004.11:g.57344779A>GClinGen:CA2931179C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.826-23A>G6731SRP72Benign7700034RCV001617912|RCV001810150; NMedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:3143994573492825734928257349282-
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)6731SRP72Conflicting interpretations of pathogenicity763655714RCV000279818|RCV003311774; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045735091757350917NC_000004.11:g.57350917A>GClinGen:CA2931245C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)6731SRP72Uncertain significance1040868057RCV001155845; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457350923573509234:g.57350923T>C-
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs)6731SRP72Pathogenic587776907RCV000024352; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457351004573510054:g.57351004_57351005delClinGen:CA129878,OMIM:602122.0001C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1225-6G>A6731SRP72Likely benign752594366RCV000293187; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945735554857355548NC_000004.11:g.57355548G>AClinGen:CA2931314C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=)6731SRP72Benign/Likely benign73818109RCV000350488|RCV000897840; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045735655857356558NC_000004.11:g.57356558T>CClinGen:CA2931346C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1410A>G (p.Leu470=)6731SRP72Benign17086879RCV000401507|RCV001514927; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045735658857356588NC_000004.11:g.57356588A>GClinGen:CA2931352C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)6731SRP72Benign/Likely benign192401229RCV000194579|RCV000310610|RCV000908698; NMedGen:CN169374|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045735768357357683NC_000004.11:g.57357683T>CClinGen:CA208823C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)6731SRP72Uncertain significance1185247120RCV001157548|RCV002032457; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202457357730573577304:g.57357730C>A-
NM_006947.4(SRP72):c.1640+6dup6731SRP72Benign/Likely benign572508224RCV000363241|RCV000502048|RCV000950121; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045735773957357740NC_000004.11:g.57357740dupAClinGen:CA2931417C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1650T>C (p.Asp550=)6731SRP72Benign/Likely benign202073540RCV000391409|RCV001821066|RCV002057934; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045736153257361532NC_000004.11:g.57361532T>CClinGen:CA2931436C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1671A>G (p.Lys557=)6731SRP72Benign34419325RCV000304944|RCV001509698|RCV001821067; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900|MedGen:CN16937445736155357361553NC_000004.11:g.57361553A>GClinGen:CA2931440C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)6731SRP72Likely benign145347209RCV000361991|RCV000504137|RCV001452033; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045736672157366721NC_000004.11:g.57366721T>CClinGen:CA2931464C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)6731SRP72Benign/Likely benign41280351RCV000263972|RCV001821068|RCV002057935; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045736672757366727NC_000004.11:g.57366727A>GClinGen:CA2931465C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)6731SRP72Benign/Likely benign143643243RCV000321410|RCV000501088|RCV001470594; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045736682657366826NC_000004.11:g.57366826G>AClinGen:CA2931481C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)6731SRP72Uncertain significance-1RCV003337780; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736791157367911-
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)6731SRP72Uncertain significance1721270142RCV001152087; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457367949573679494:g.57367949C>G-
NM_006947.4(SRP72):c.2004A>G (p.Lys668=)6731SRP72Benign/Likely benign148068843RCV000355312|RCV000503122|RCV001405951; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C366190045736801557368015NC_000004.11:g.57368015A>GClinGen:CA2931520C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*24G>A6731SRP72Benign144710632RCV000262862; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368051573680514:g.57368051G>AClinGen:CA2931526C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*125GT[1]6731SRP72Uncertain significance886059498RCV000315753; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736815157368152NC_000004.11:g.57368152GT[1]ClinGen:CA10617978C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*139G>A6731SRP72Benign28438730RCV000372740|RCV001692002; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045736816657368166NC_000004.11:g.57368166G>AClinGen:CA10618920C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*142A>G6731SRP72Uncertain significance878964615RCV001152088; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368169573681694:g.57368169A>G-
NM_006947.4(SRP72):c.*173T>C6731SRP72Benign10051RCV000295395|RCV001643055; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C366190045736820057368200NC_000004.11:g.57368200T>CClinGen:CA10618922C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*194G>A6731SRP72Uncertain significance188713088RCV000333970; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736822157368221NC_000004.11:g.57368221G>AClinGen:CA10621309C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*221A>G6731SRP72Uncertain significance149250989RCV000386129; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736824857368248NC_000004.11:g.57368248A>GClinGen:CA10618924C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*227G>A6731SRP72Uncertain significance879875987RCV000294141; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736825457368254NC_000004.11:g.57368254G>AClinGen:CA10621310C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*321A>G6731SRP72Uncertain significance886059499RCV000346644; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736834857368348NC_000004.11:g.57368348A>GClinGen:CA10618930C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*386G>A6731SRP72Benign4260596RCV000396841; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736841357368413NC_000004.11:g.57368413G>AClinGen:CA10621330C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*407T>C6731SRP72Uncertain significance541665813RCV000288069; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736843457368434NC_000004.11:g.57368434T>CClinGen:CA10617987C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*442A>G6731SRP72Benign7762RCV000345332; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736846957368469NC_000004.11:g.57368469A>GClinGen:CA10618931C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*473G>A6731SRP72Uncertain significance1020026480RCV001153351; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368500573685004:g.57368500G>A-
NM_006947.4(SRP72):c.*505C>T6731SRP72Uncertain significance562987091RCV001153352; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368532573685324:g.57368532C>T-
NM_006947.4(SRP72):c.*558T>C6731SRP72Benign568178342RCV000398602; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368585573685854:g.57368585T>CClinGen:CA10621343C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606AT[10]6731SRP72Uncertain significance201131530RCV000305756; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368631573686324:g.57368631_57368632insTATAClinGen:CA10621314C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606A>T6731SRP72Uncertain significance868279024RCV000340523; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368633573686334:g.57368633A>TClinGen:CA10618932C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*622_*649del6731SRP72Benign59791697RCV000393078; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368635573686624:g.57368635_57368662delClinGen:CA10621315C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*622G>A6731SRP72Uncertain significance775675334RCV001155963; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368649573686494:g.57368649G>A-
NM_006947.4(SRP72):c.*624A>G6731SRP72Uncertain significance867685822RCV001155964; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368651573686514:g.57368651A>G-
NM_006947.4(SRP72):c.*633T>C6731SRP72Uncertain significance867120149RCV001155965; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368660573686604:g.57368660T>C-
NM_006947.4(SRP72):c.*637TA[11]6731SRP72Conflicting interpretations of pathogenicity35852754RCV000353198|RCV003430892; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900457368662573686634:g.57368662_57368663insATATATClinGen:CA10617988C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*635C>T6731SRP72Uncertain significance200981113RCV000260891; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368662573686624:g.57368662C>TClinGen:CA10618934C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[9]6731SRP72Uncertain significance35852754RCV000300710; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368662573686634:g.57368662_57368663insATClinGen:CA10621344C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[7]6731SRP72Uncertain significance35852754RCV000313798; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457368663573686644:g.57368663_57368664delClinGen:CA10618935C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*732A>G6731SRP72Benign14211RCV000370673; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736875957368759NC_000004.11:g.57368759A>GClinGen:CA10617990C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*780C>T6731SRP72Benign10518RCV000273854; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736880757368807NC_000004.11:g.57368807C>TClinGen:CA10618936C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*839T>C6731SRP72Uncertain significance757066668RCV000330791; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736886657368866NC_000004.11:g.57368866T>CClinGen:CA10617993C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*972G>A6731SRP72Benign189886380RCV000382993; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736899957368999NC_000004.11:g.57368999G>AClinGen:CA10621349C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1227_*1232del6731SRP72Uncertain significance886059502RCV000272257; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736925157369256NC_000004.11:g.57369254_57369259delClinGen:CA10621316C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1241C>T6731SRP72Uncertain significance1282273094RCV001157665; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457369268573692684:g.57369268C>T-
NM_006947.4(SRP72):c.*1313C>G6731SRP72Benign113719942RCV000325037; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736934057369340NC_000004.11:g.57369340C>GClinGen:CA10621350C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1385A>G6731SRP72Uncertain significance754461786RCV001157666; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457369412573694124:g.57369412A>G-
NM_006947.4(SRP72):c.*1478C>A6731SRP72Uncertain significance1405583789RCV001157667; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457369505573695054:g.57369505C>A-
NM_006947.4(SRP72):c.*1483A>G6731SRP72Uncertain significance566533583RCV001157668; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399457369510573695104:g.57369510A>G-
NM_006947.4(SRP72):c.*1603A>G6731SRP72Benign1142851RCV000382011; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736963057369630NC_000004.11:g.57369630A>GClinGen:CA10617994C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1678C>T6731SRP72Uncertain significance886059503RCV000285487; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736970557369705NC_000004.11:g.57369705C>TClinGen:CA10618940C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1764A>G6731SRP72Uncertain significance192226722RCV000342768; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736979157369791NC_000004.11:g.57369791A>GClinGen:CA10617995C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1769T>G6731SRP72Uncertain significance886059504RCV000376371; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736979657369796NC_000004.11:g.57369796T>GClinGen:CA10618941C3808553 614675 Bone marrow failure syndrome 1;
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