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:
expand
Anemia, Aplastic (D000741)
Parent Node:
expand
Bone Marrow Diseases (D001855)
Parent Node:
expand
Hemoglobinuria, Paroxysmal (D006457)
..Starting node
..expand
Bone Marrow failure syndromes (C536572)

       Child Nodes:



 Sister Nodes: 
..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.7A>G (p.Ser3Gly)6731SRP72Uncertain significancers1719782337RCV001151984; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733380857333808AG4:g.57333808A>G-
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)6731SRP72Benignrs17524437RCV000391775|RCV000962859; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733382057333820GTNC_000004.11:g.57333820G>TClinGen:CA2930920C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)6731SRP72Conflicting interpretations of pathogenicityrs139502866RCV000312195|RCV001821062|RCV001850853; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245733382157333821GANC_000004.11:g.57333821G>AClinGen:CA2930923C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)6731SRP72Benign/Likely benignrs139502866RCV000500157|RCV000445168|RCV001151985; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733382157333821GCNC_000004.11:g.57333821G>CClinGen:CA2930922CN517202 not provided;
NM_006947.4(SRP72):c.21G>T (p.Gly7=)6731SRP72Benignrs12513091RCV000364512|RCV001518009; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733382257333822GTNC_000004.11:g.57333822G>TClinGen:CA2930925C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)6731SRP72Benignrs760960779RCV000272329; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733382457333824GANC_000004.11:g.57333824G>AClinGen:CA2930929C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)6731SRP72Uncertain significancers752240949RCV001153246; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945733383057333830CT4:g.57333830C>T-
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)6731SRP72Conflicting interpretations of pathogenicityrs781230154RCV000325091|RCV001861232; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733383857333838GTNC_000004.11:g.57333838G>TClinGen:CA2930940C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)6731SRP72Benign/Likely benignrs111673705RCV000363461|RCV000502255|RCV001498849; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245733385957333859CTNC_000004.11:g.57333859C>TClinGen:CA2930944C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.110-5T>G6731SRP72Conflicting interpretations of pathogenicityrs186908289RCV001153247|RCV001759910; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733581457335814TG4:g.57335814T>G-
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)6731SRP72Conflicting interpretations of pathogenicityrs201940585RCV000266588|RCV001355587|RCV001821063; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202|MedGen:CN16937445733584257335842GANC_000004.11:g.57335842G>AClinGen:CA2930980C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.144G>T (p.Leu48=)6731SRP72Benign/Likely benignrs112496764RCV000321084|RCV000908697; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733585357335853GTNC_000004.11:g.57335853G>TClinGen:CA2930983C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.294G>A (p.Leu98=)6731SRP72Benignrs145137299RCV000378058|RCV002061246; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245733794957337949GANC_000004.11:g.57337949G>AClinGen:CA2931030C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)6731SRP72Benign/Likely benignrs145817936RCV000281124|RCV001821064|RCV001510023; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245734027157340271GANC_000004.11:g.57340271G>AClinGen:CA2931058C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)6731SRP72Uncertain significancers772592244RCV001155843; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945734052157340521CG4:g.57340521C>G-
NM_006947.4(SRP72):c.610+35C>T6731SRP72Benign-1RCV001613770|RCV001810120; NMedGen:CN517202|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945734059257340592CT57340592-
NM_006947.4(SRP72):c.620G>A (p.Arg207His)6731SRP72Uncertain significancers387907189RCV000024353|RCV001852568; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245734284657342846GA4:g.57342846G>AOMIM:602122.0002,ClinGen:CA129879,UniProtKB:O76094#VAR_068522C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.686A>G (p.His229Arg)6731SRP72Benignrs138986942RCV000319836|RCV001511218; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245734458857344588AGNC_000004.11:g.57344588A>GClinGen:CA2931154C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.789A>G (p.Leu263=)6731SRP72Benignrs77935196RCV000372097|RCV001821065|RCV002057933; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245734477957344779AGNC_000004.11:g.57344779A>GClinGen:CA2931179C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.826-23A>G6731SRP72Benign-1RCV001617912|RCV001810150; NMedGen:CN517202|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945734928257349282AG57349282-
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)6731SRP72Uncertain significancers763655714RCV000279818; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945735091757350917AGNC_000004.11:g.57350917A>GClinGen:CA2931245C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)6731SRP72Uncertain significancers1040868057RCV001155845; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945735092357350923TC4:g.57350923T>C-
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs)6731SRP72Pathogenicrs587776907RCV000024352; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945735100457351005GCAG4:g.57351004_57351005delClinGen:CA129878,OMIM:602122.0001C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1225-6G>A6731SRP72Likely benignrs752594366RCV000293187; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945735554857355548GANC_000004.11:g.57355548G>AClinGen:CA2931314C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=)6731SRP72Benign/Likely benignrs73818109RCV000350488|RCV000897840; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245735655857356558TCNC_000004.11:g.57356558T>CClinGen:CA2931346C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1410A>G (p.Leu470=)6731SRP72Benignrs17086879RCV000401507|RCV001514927; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245735658857356588AGNC_000004.11:g.57356588A>GClinGen:CA2931352C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)6731SRP72Benign/Likely benignrs192401229RCV000194579|RCV000310610|RCV000908698; NMedGen:CN169374|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245735768357357683TCNC_000004.11:g.57357683T>CClinGen:CA208823C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)6731SRP72Uncertain significancers1185247120RCV001157548|RCV002032457; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245735773057357730CA4:g.57357730C>A-
NM_006947.4(SRP72):c.1640+6dup6731SRP72Benign/Likely benignrs572508224RCV000363241|RCV000502048|RCV000950121; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245735773957357740TTANC_000004.11:g.57357740dupAClinGen:CA2931417C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1650T>C (p.Asp550=)6731SRP72Benign/Likely benignrs202073540RCV000391409|RCV001821066|RCV002057934; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245736153257361532TCNC_000004.11:g.57361532T>CClinGen:CA2931436C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1671A>G (p.Lys557=)6731SRP72Benignrs34419325RCV000304944|RCV001509698|RCV001821067; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202|MedGen:CN16937445736155357361553AGNC_000004.11:g.57361553A>GClinGen:CA2931440C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)6731SRP72Likely benignrs145347209RCV000361991|RCV000504137|RCV001452033; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245736672157366721TCNC_000004.11:g.57366721T>CClinGen:CA2931464C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)6731SRP72Benign/Likely benignrs41280351RCV000263972|RCV002057935|RCV001821068; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202|MedGen:CN16937445736672757366727AGNC_000004.11:g.57366727A>GClinGen:CA2931465C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)6731SRP72Benign/Likely benignrs143643243RCV000321410|RCV000501088|RCV001470594; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245736682657366826GANC_000004.11:g.57366826G>AClinGen:CA2931481C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)6731SRP72Uncertain significancers1721270142RCV001152087; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736794957367949CG4:g.57367949C>G-
NM_006947.4(SRP72):c.2004A>G (p.Lys668=)6731SRP72Benign/Likely benignrs148068843RCV000355312|RCV000503122|RCV001405951; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:CN51720245736801557368015AGNC_000004.11:g.57368015A>GClinGen:CA2931520C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*24G>A6731SRP72Benignrs144710632RCV000262862; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736805157368051GA4:g.57368051G>AClinGen:CA2931526C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*125GT[1]6731SRP72Uncertain significancers886059498RCV000315753; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736815157368152TTGTNC_000004.11:g.57368152GT[1]ClinGen:CA10617978C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*139G>A6731SRP72Benignrs28438730RCV000372740|RCV001692002; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245736816657368166GANC_000004.11:g.57368166G>AClinGen:CA10618920C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*142A>G6731SRP72Uncertain significancers878964615RCV001152088; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736816957368169AG4:g.57368169A>G-
NM_006947.4(SRP72):c.*173T>C6731SRP72Benignrs10051RCV000295395|RCV001643055; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN51720245736820057368200TCNC_000004.11:g.57368200T>CClinGen:CA10618922C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*194G>A6731SRP72Uncertain significancers188713088RCV000333970; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736822157368221GANC_000004.11:g.57368221G>AClinGen:CA10621309C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*221A>G6731SRP72Uncertain significancers149250989RCV000386129; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736824857368248AGNC_000004.11:g.57368248A>GClinGen:CA10618924C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*227G>A6731SRP72Uncertain significancers879875987RCV000294141; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736825457368254GANC_000004.11:g.57368254G>AClinGen:CA10621310C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*321A>G6731SRP72Uncertain significancers886059499RCV000346644; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736834857368348AGNC_000004.11:g.57368348A>GClinGen:CA10618930C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*386G>A6731SRP72Benignrs4260596RCV000396841; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736841357368413GANC_000004.11:g.57368413G>AClinGen:CA10621330C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*407T>C6731SRP72Uncertain significancers541665813RCV000288069; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736843457368434TCNC_000004.11:g.57368434T>CClinGen:CA10617987C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*442A>G6731SRP72Benignrs7762RCV000345332; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736846957368469AGNC_000004.11:g.57368469A>GClinGen:CA10618931C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*473G>A6731SRP72Uncertain significancers1020026480RCV001153351; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736850057368500GA4:g.57368500G>A-
NM_006947.4(SRP72):c.*505C>T6731SRP72Uncertain significancers562987091RCV001153352; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736853257368532CT4:g.57368532C>T-
NM_006947.4(SRP72):c.*558T>C6731SRP72Benignrs568178342RCV000398602; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736858557368585TC4:g.57368585T>CClinGen:CA10621343C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606AT[10]6731SRP72Uncertain significancers201131530RCV000305756; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736863157368632TTTATA4:g.57368631_57368632insTATAClinGen:CA10621314C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606A>T6731SRP72Uncertain significancers868279024RCV000340523; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736863357368633AT4:g.57368633A>TClinGen:CA10618932C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*622_*649del6731SRP72Benignrs59791697RCV000393078; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736863557368662TATATATATATATATGTATATATATATACT4:g.57368635_57368662delClinGen:CA10621315C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*622G>A6731SRP72Uncertain significancers775675334RCV001155963; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736864957368649GA4:g.57368649G>A-
NM_006947.4(SRP72):c.*624A>G6731SRP72Uncertain significancers867685822RCV001155964; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736865157368651AG4:g.57368651A>G-
NM_006947.4(SRP72):c.*633T>C6731SRP72Uncertain significancers867120149RCV001155965; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736866057368660TC4:g.57368660T>C-
NM_006947.4(SRP72):c.*637TA[11]6731SRP72Uncertain significancers35852754RCV000353198; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736866257368663CCATATAT4:g.57368662_57368663insATATATClinGen:CA10617988C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*635C>T6731SRP72Uncertain significancers200981113RCV000260891; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736866257368662CT4:g.57368662C>TClinGen:CA10618934C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[9]6731SRP72Uncertain significancers35852754RCV000300710; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736866257368663CCAT4:g.57368662_57368663insATClinGen:CA10621344C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[7]6731SRP72Uncertain significancers35852754RCV000313798; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736866357368664CATC4:g.57368663_57368664delClinGen:CA10618935C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*732A>G6731SRP72Benignrs14211RCV000370673; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736875957368759AGNC_000004.11:g.57368759A>GClinGen:CA10617990C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*780C>T6731SRP72Benignrs10518RCV000273854; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736880757368807CTNC_000004.11:g.57368807C>TClinGen:CA10618936C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*839T>C6731SRP72Uncertain significancers757066668RCV000330791; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736886657368866TCNC_000004.11:g.57368866T>CClinGen:CA10617993C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*972G>A6731SRP72Benignrs189886380RCV000382993; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736899957368999GANC_000004.11:g.57368999G>AClinGen:CA10621349C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1227_*1232del6731SRP72Uncertain significancers886059502RCV000272257; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736925157369256TTGACTCTNC_000004.11:g.57369254_57369259delClinGen:CA10621316C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1241C>T6731SRP72Uncertain significancers1282273094RCV001157665; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736926857369268CT4:g.57369268C>T-
NM_006947.4(SRP72):c.*1313C>G6731SRP72Benignrs113719942RCV000325037; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736934057369340CGNC_000004.11:g.57369340C>GClinGen:CA10621350C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1385A>G6731SRP72Uncertain significancers754461786RCV001157666; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736941257369412AG4:g.57369412A>G-
NM_006947.4(SRP72):c.*1478C>A6731SRP72Uncertain significancers1405583789RCV001157667; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736950557369505CA4:g.57369505C>A-
NM_006947.4(SRP72):c.*1483A>G6731SRP72Uncertain significancers566533583RCV001157668; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736951057369510AG4:g.57369510A>G-
NM_006947.4(SRP72):c.*1603A>G6731SRP72Benignrs1142851RCV000382011; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736963057369630AGNC_000004.11:g.57369630A>GClinGen:CA10617994C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1678C>T6731SRP72Uncertain significancers886059503RCV000285487; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736970557369705CTNC_000004.11:g.57369705C>TClinGen:CA10618940C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1764A>G6731SRP72Uncertain significancers192226722RCV000342768; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736979157369791AGNC_000004.11:g.57369791A>GClinGen:CA10617995C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1769T>G6731SRP72Uncertain significancers886059504RCV000376371; NMONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:31439945736979657369796TGNC_000004.11:g.57369796T>GClinGen:CA10618941C3808553 614675 Bone marrow failure syndrome 1;
MSeqDR Portal