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.-10C>T | 6731 | SRP72 | Uncertain significance | -1 | RCV002466798; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57333792 | 57333792 | | | NC_000004.11:g.57333792C>T | - | | |
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly) | 6731 | SRP72 | Uncertain significance | 1719782337 | RCV001151984; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57333808 | 57333808 | | | 4:g.57333808A>G | - | | |
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) | 6731 | SRP72 | Benign | 17524437 | RCV000391775|RCV000962859; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57333820 | 57333820 | | | 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 | 139502866 | RCV000312195|RCV001850853|RCV001821062; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202|MedGen:CN169374 | 4 | 57333821 | 57333821 | | | 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 | 139502866 | RCV000445168|RCV000500157|RCV001151985; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57333821 | 57333821 | | | NC_000004.11:g.57333821G>C | ClinGen:CA2930922 | CN517202 not provided; | |
NM_006947.4(SRP72):c.21G>T (p.Gly7=) | 6731 | SRP72 | Benign | 12513091 | RCV000364512|RCV001518009; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57333822 | 57333822 | | | 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 | Conflicting interpretations of pathogenicity | 760960779 | RCV000272329|RCV003258787; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C0950123 | 4 | 57333824 | 57333824 | | | 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 | 752240949 | RCV001153246; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57333830 | 57333830 | | | 4:g.57333830C>T | - | | |
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) | 6731 | SRP72 | Conflicting interpretations of pathogenicity | 781230154 | RCV000325091|RCV001861232; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202 | 4 | 57333838 | 57333838 | | | 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 | 111673705 | RCV000363461|RCV000502255|RCV001498849; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57333859 | 57333859 | | | 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 | 186908289 | RCV001153247|RCV001759910; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57335814 | 57335814 | | | 4:g.57335814T>G | - | | |
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) | 6731 | SRP72 | Conflicting interpretations of pathogenicity | 201940585 | RCV000266588|RCV001355587|RCV001821063|RCV003409552; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900|MedGen:CN169374| | 4 | 57335842 | 57335842 | | | 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 | 112496764 | RCV000321084|RCV000908697; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57335853 | 57335853 | | | 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 | 145137299 | RCV000378058|RCV002061246; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202 | 4 | 57337949 | 57337949 | | | 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 | Conflicting interpretations of pathogenicity | 145817936 | RCV000281124|RCV001821064|RCV001510023; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57340271 | 57340271 | | | 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 | 772592244 | RCV001155843; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57340521 | 57340521 | | | 4:g.57340521C>G | - | | |
NM_006947.4(SRP72):c.610+35C>T | 6731 | SRP72 | Benign | 11610 | RCV001613770|RCV001810120; | N | MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57340592 | 57340592 | | | 57340592 | - | | |
NM_006947.4(SRP72):c.620G>A (p.Arg207His) | 6731 | SRP72 | Uncertain significance | 387907189 | RCV001852568|RCV000024353; | N | MedGen:CN517202|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57342846 | 57342846 | | | 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.622C>T (p.Arg208Cys) | 6731 | SRP72 | Uncertain significance | 375436807 | RCV001817297|RCV001885320|RCV002506848|RCV002542522; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C0950123 | 4 | 57342848 | 57342848 | | | 57342848 | - | | |
NM_006947.4(SRP72):c.623G>A (p.Arg208His) | 6731 | SRP72 | Uncertain significance | 369761160 | RCV001987461|RCV002492057|RCV002563426; | N | MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MeSH:D030342,MedGen:C0950123 | 4 | 57342849 | 57342849 | | | 57342849 | - | | |
NM_006947.4(SRP72):c.686A>G (p.His229Arg) | 6731 | SRP72 | Benign | 138986942 | RCV000319836|RCV001511218; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57344588 | 57344588 | | | 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 | 77935196 | RCV000372097|RCV001821065|RCV002057933; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57344779 | 57344779 | | | 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 | 7700034 | RCV001617912|RCV001810150; | N | MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57349282 | 57349282 | | | 57349282 | - | | |
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) | 6731 | SRP72 | Conflicting interpretations of pathogenicity | 763655714 | RCV000279818|RCV003311774; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57350917 | 57350917 | | | 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 | 1040868057 | RCV001155845; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57350923 | 57350923 | | | 4:g.57350923T>C | - | | |
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) | 6731 | SRP72 | Pathogenic | 587776907 | RCV000024352; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57351004 | 57351005 | | | 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 | 752594366 | RCV000293187; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57355548 | 57355548 | | | 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 | 73818109 | RCV000350488|RCV000897840; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57356558 | 57356558 | | | 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 | 17086879 | RCV000401507|RCV001514927; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57356588 | 57356588 | | | 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 | 192401229 | RCV000194579|RCV000310610|RCV000908698; | N | MedGen:CN169374|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57357683 | 57357683 | | | 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 | 1185247120 | RCV001157548|RCV002032457; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN517202 | 4 | 57357730 | 57357730 | | | 4:g.57357730C>A | - | | |
NM_006947.4(SRP72):c.1640+6dup | 6731 | SRP72 | Benign/Likely benign | 572508224 | RCV000363241|RCV000502048|RCV000950121; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57357739 | 57357740 | | | 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 | 202073540 | RCV000391409|RCV001821066|RCV002057934; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57361532 | 57361532 | | | 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 | 34419325 | RCV000304944|RCV001509698|RCV001821067; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900|MedGen:CN169374 | 4 | 57361553 | 57361553 | | | 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 | 145347209 | RCV000361991|RCV000504137|RCV001452033; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57366721 | 57366721 | | | 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 | 41280351 | RCV000263972|RCV001821068|RCV002057935; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57366727 | 57366727 | | | 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 | 143643243 | RCV000321410|RCV000501088|RCV001470594; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57366826 | 57366826 | | | NC_000004.11:g.57366826G>A | ClinGen:CA2931481 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu) | 6731 | SRP72 | Uncertain significance | -1 | RCV003337780; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57367911 | 57367911 | | | | - | | |
NM_006947.4(SRP72):c.1938C>G (p.His646Gln) | 6731 | SRP72 | Uncertain significance | 1721270142 | RCV001152087; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57367949 | 57367949 | | | 4:g.57367949C>G | - | | |
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) | 6731 | SRP72 | Benign/Likely benign | 148068843 | RCV000355312|RCV000503122|RCV001405951; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:CN169374|MedGen:C3661900 | 4 | 57368015 | 57368015 | | | 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 | 144710632 | RCV000262862; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368051 | 57368051 | | | 4:g.57368051G>A | ClinGen:CA2931526 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*125GT[1] | 6731 | SRP72 | Uncertain significance | 886059498 | RCV000315753; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368151 | 57368152 | | | 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 | 28438730 | RCV000372740|RCV001692002; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57368166 | 57368166 | | | 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 | 878964615 | RCV001152088; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368169 | 57368169 | | | 4:g.57368169A>G | - | | |
NM_006947.4(SRP72):c.*173T>C | 6731 | SRP72 | Benign | 10051 | RCV000295395|RCV001643055; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57368200 | 57368200 | | | 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 | 188713088 | RCV000333970; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368221 | 57368221 | | | 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 | 149250989 | RCV000386129; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368248 | 57368248 | | | 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 | 879875987 | RCV000294141; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368254 | 57368254 | | | 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 | 886059499 | RCV000346644; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368348 | 57368348 | | | 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 | 4260596 | RCV000396841; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368413 | 57368413 | | | 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 | 541665813 | RCV000288069; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368434 | 57368434 | | | 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 | 7762 | RCV000345332; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368469 | 57368469 | | | 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 | 1020026480 | RCV001153351; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368500 | 57368500 | | | 4:g.57368500G>A | - | | |
NM_006947.4(SRP72):c.*505C>T | 6731 | SRP72 | Uncertain significance | 562987091 | RCV001153352; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368532 | 57368532 | | | 4:g.57368532C>T | - | | |
NM_006947.4(SRP72):c.*558T>C | 6731 | SRP72 | Benign | 568178342 | RCV000398602; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368585 | 57368585 | | | 4:g.57368585T>C | ClinGen:CA10621343 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*606AT[10] | 6731 | SRP72 | Uncertain significance | 201131530 | RCV000305756; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368631 | 57368632 | | | 4:g.57368631_57368632insTATA | ClinGen:CA10621314 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*606A>T | 6731 | SRP72 | Uncertain significance | 868279024 | RCV000340523; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368633 | 57368633 | | | 4:g.57368633A>T | ClinGen:CA10618932 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*622_*649del | 6731 | SRP72 | Benign | 59791697 | RCV000393078; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368635 | 57368662 | | | 4:g.57368635_57368662del | ClinGen:CA10621315 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*622G>A | 6731 | SRP72 | Uncertain significance | 775675334 | RCV001155963; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368649 | 57368649 | | | 4:g.57368649G>A | - | | |
NM_006947.4(SRP72):c.*624A>G | 6731 | SRP72 | Uncertain significance | 867685822 | RCV001155964; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368651 | 57368651 | | | 4:g.57368651A>G | - | | |
NM_006947.4(SRP72):c.*633T>C | 6731 | SRP72 | Uncertain significance | 867120149 | RCV001155965; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368660 | 57368660 | | | 4:g.57368660T>C | - | | |
NM_006947.4(SRP72):c.*637TA[11] | 6731 | SRP72 | Conflicting interpretations of pathogenicity | 35852754 | RCV000353198|RCV003430892; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399|MedGen:C3661900 | 4 | 57368662 | 57368663 | | | 4:g.57368662_57368663insATATAT | ClinGen:CA10617988 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*635C>T | 6731 | SRP72 | Uncertain significance | 200981113 | RCV000260891; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368662 | 57368662 | | | 4:g.57368662C>T | ClinGen:CA10618934 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*637TA[9] | 6731 | SRP72 | Uncertain significance | 35852754 | RCV000300710; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368662 | 57368663 | | | 4:g.57368662_57368663insAT | ClinGen:CA10621344 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*637TA[7] | 6731 | SRP72 | Uncertain significance | 35852754 | RCV000313798; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368663 | 57368664 | | | 4:g.57368663_57368664del | ClinGen:CA10618935 | C3808553 614675 Bone marrow failure syndrome 1; | |
NM_006947.4(SRP72):c.*732A>G | 6731 | SRP72 | Benign | 14211 | RCV000370673; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368759 | 57368759 | | | 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 | 10518 | RCV000273854; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368807 | 57368807 | | | 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 | 757066668 | RCV000330791; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368866 | 57368866 | | | 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 | 189886380 | RCV000382993; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57368999 | 57368999 | | | 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 | 886059502 | RCV000272257; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369251 | 57369256 | | | 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 | 1282273094 | RCV001157665; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369268 | 57369268 | | | 4:g.57369268C>T | - | | |
NM_006947.4(SRP72):c.*1313C>G | 6731 | SRP72 | Benign | 113719942 | RCV000325037; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369340 | 57369340 | | | 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 | 754461786 | RCV001157666; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369412 | 57369412 | | | 4:g.57369412A>G | - | | |
NM_006947.4(SRP72):c.*1478C>A | 6731 | SRP72 | Uncertain significance | 1405583789 | RCV001157667; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369505 | 57369505 | | | 4:g.57369505C>A | - | | |
NM_006947.4(SRP72):c.*1483A>G | 6731 | SRP72 | Uncertain significance | 566533583 | RCV001157668; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369510 | 57369510 | | | 4:g.57369510A>G | - | | |
NM_006947.4(SRP72):c.*1603A>G | 6731 | SRP72 | Benign | 1142851 | RCV000382011; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369630 | 57369630 | | | 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 | 886059503 | RCV000285487; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369705 | 57369705 | | | 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 | 192226722 | RCV000342768; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369791 | 57369791 | | | 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 | 886059504 | RCV000376371; | N | MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399 | 4 | 57369796 | 57369796 | | | NC_000004.11:g.57369796T>G | ClinGen:CA10618941 | C3808553 614675 Bone marrow failure syndrome 1; | |