Total 105 pathogenic variants reported for Spondylocostal dysostosis
Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)
|
SNV Germline |
Chr15:89776664 |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA340356 |
rs_71647808 |
5 SubmittersRCV000005493RCV000760454 |
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)
|
SNV Germline |
Chr15:89776730 |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
No Assertion Criteria Provided |
CA340358 |
rs_71647806 |
2 SubmittersRCV000005494 |
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)
|
SNV Germline |
Chr15:89777057 |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
No Assertion Criteria Provided |
CA340360 |
rs_118204035 |
2 SubmittersRCV000005495 |
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)
|
SNV Germline |
Chr19:39507099 |
Pathogenic |
Spondylocostal dysostosis 1, autosomal recessive |
No Assertion Criteria Provided |
CA253972 |
rs_104894674 |
1 SubmittersRCV000007232 |
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)
|
SNV Germline |
Chr19:39504130 |
Pathogenic |
Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA253975 |
rs_104894675 |
4 SubmittersRCV000007235RCV001558657 |
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)
|
SNV Germline |
Chr19:39507456 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA253978 |
rs_104894676 |
3 SubmittersRCV000007237RCV000996922 |
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)
|
SNV Germline |
Chr7:2525301 |
Pathogenic |
Spondylocostal dysostosis 3, autosomal recessive Spondylocostal dysostosis 2, autosomal recessive |
No Assertion Criteria Provided |
CA340626 |
rs_104894024 |
2 SubmittersRCV000007414RCV002269818 |
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
SNV Germline |
Chr17:8123096 |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive Spondylocostal dysostosis 2, autosomal recessive |
No Assertion Criteria Provided |
CA129403 |
rs_113994160 |
2 SubmittersRCV000034271RCV002269820 |
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)
|
SNV Germline |
Chr17:8121693 |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
No Assertion Criteria Provided |
CA129404 |
rs_387906978 |
1 SubmittersRCV001807738 |
NM_001165967.2(HES7):c.172A>G (p.Ile58Val)
|
SNV Germline |
Chr17:8122397 |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
No Assertion Criteria Provided |
CA129405 |
rs_387906979 |
1 SubmittersRCV001807739 |
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
SNV Germline |
Chr15:89776598 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA343154 |
rs_118204034 |
3 SubmittersRCV000032155RCV001389330 |
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)
|
SNV Germline |
Chr16:30086225 |
Pathogenic |
Spondylocostal dysostosis 5 Spondylocostal dysostosis 2, autosomal recessive |
No Assertion Criteria Provided |
CA150573 |
rs_587777113 |
2 SubmittersRCV000087033RCV002269823 |
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)
|
SNV Germline |
Chr16:30086847 |
Pathogenic |
Spondylocostal dysostosis 5 |
Criteria Provided Single Submitter |
CA198670 |
rs_201620629 |
2 SubmittersRCV000167862 |
NM_004608.4(TBX6):c.-49+34G>T
|
SNV Germline |
Chr16:30091839 |
Conflicting classifications of pathogenicity |
not specified Spondylocostal dysostosis 5 |
Criteria Provided Conflicting Classifications |
|
rs_3809627 |
2 SubmittersRCV002248717RCV002244959 |
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)
|
SNV Germline |
Chr16:30089130 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 5 Scoliosis Condition: not provided |
Criteria Provided Conflicting Classifications |
CA198674 |
rs_202193096 |
3 SubmittersRCV000167866RCV000855736RCV001316105 |
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)
|
SNV Germline |
Chr19:39507081 |
Pathogenic/Likely pathogenic |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Multiple Submitters No Conflicts |
CA236024 |
rs_786205519 |
2 SubmittersRCV000171283RCV001328972 |
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
SNV Germline |
Chr6:83854160 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 6, autosomal recessive Condition: not provided Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Conflicting Classifications |
CA351422 |
rs_201419367 |
8 SubmittersRCV000207268RCV000275086RCV002270021 |
NM_001009994.3(RIPPLY2):c.240-4T>G
|
SNV Germline |
Chr6:83857238 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 6, autosomal recessive Condition: not provided Spondylocostal dysostosis 2, autosomal recessive RIPPLY2-related disorder |
Criteria Provided Conflicting Classifications |
CA351419 |
rs_370933531 |
4 SubmittersRCV000207041RCV000888795RCV002270022RCV003390955 |
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)
|
SNV Germline |
Chr15:89778097 |
Conflicting classifications of pathogenicity |
not specified Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7730559 |
rs_752665246 |
4 SubmittersRCV000245402RCV000664884RCV000932131 |
NM_203486.3(DLL3):c.153C>T (p.Ser51=)
|
SNV Germline |
Chr19:39499275 |
Conflicting classifications of pathogenicity |
not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA9432121 |
rs_373980582 |
4 SubmittersRCV000252425RCV001130371RCV001130372RCV001419787 |
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
SNV Germline |
Chr15:89776663 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive not specified Condition: not provided MESP2-related disorder |
Criteria Provided Conflicting Classifications |
CA7730388 |
rs_77473319 |
6 SubmittersRCV000309067RCV000390297RCV000903908RCV003957433 |
NM_001040167.2(LFNG):c.573C>T (p.Ser191=)
|
SNV Germline |
Chr7:2525310 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 3, autosomal recessive |
Criteria Provided Conflicting Classifications |
CA4127008 |
rs_139864844 |
2 SubmittersRCV000354179RCV001079317 |
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)
|
SNV Germline |
Chr19:39504095 |
Conflicting classifications of pathogenicity |
not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA9432249 |
rs_145191532 |
5 SubmittersRCV000363667RCV001134170RCV001134171RCV001518609 |
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)
|
SNV Germline |
Chr15:89778220 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7730595 |
rs_762014488 |
2 SubmittersRCV000288460RCV000980383 |
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)
|
SNV Germline |
Chr15:89776542 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided Inborn genetic diseases MESP2-related disorder |
Criteria Provided Conflicting Classifications |
CA7730362 |
rs_566641514 |
5 SubmittersRCV000348753RCV000909848RCV002522810RCV003920337 |
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
SNV Germline |
Chr15:89776918 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7730455 |
rs_767474985 |
4 SubmittersRCV000260981RCV000942222 |
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
SNV Germline |
Chr15:89776930 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive not specified |
Criteria Provided Conflicting Classifications |
CA7730457 |
rs_113097169 |
5 SubmittersRCV000316442RCV000455241 |
NM_001039958.2(MESP2):c.585A>G (p.Gly195=)
|
SNV Germline |
Chr15:89776942 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive MESP2-related disorder |
Criteria Provided Conflicting Classifications |
CA7730462 |
rs_113636330 |
2 SubmittersRCV000389611RCV003957641 |
NM_001039958.2(MESP2):c.597A>G (p.Gly199=)
|
SNV Germline |
Chr15:89776954 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7730465 |
rs_778503063 |
2 SubmittersRCV000295228RCV001487160 |
NM_203486.3(DLL3):c.939G>A (p.Gly313=)
|
SNV Germline |
Chr19:39505297 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided DLL3-related disorder |
Criteria Provided Conflicting Classifications |
CA9432318 |
rs_150100958 |
3 SubmittersRCV000302225RCV000340792RCV000902994RCV003969939 |
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)
|
SNV Germline |
Chr19:39503026 |
Pathogenic/Likely pathogenic |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Multiple Submitters No Conflicts |
CA9432222 |
rs_771875570 |
3 SubmittersRCV000484500RCV001782964 |
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)
|
SNV Germline |
Chr19:39504223 |
Conflicting classifications of pathogenicity |
Condition: not provided Syndactyly Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Conflicting Classifications |
CA9432269 |
rs_139297205 |
3 SubmittersRCV000521001RCV001134172RCV001134173 |
NM_001040167.2(LFNG):c.735+9C>T
|
SNV Germline |
Chr7:2525576 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 3, autosomal recessive |
Criteria Provided Conflicting Classifications |
CA4127083 |
rs_202171160 |
2 SubmittersRCV000591938RCV001088760 |
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu)
|
SNV Germline |
Chr7:2526884 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 3, autosomal recessive Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA4127261 |
rs_71647813 |
3 SubmittersRCV000591962RCV001469266RCV002531026 |
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)
|
SNV Germline |
Chr19:39505340 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly |
Criteria Provided Conflicting Classifications |
CA9432326 |
rs_749513254 |
4 SubmittersRCV000594292RCV001001026RCV001128678 |
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
SNV Germline |
Chr19:39503021 |
Conflicting classifications of pathogenicity |
not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA9432219 |
rs_376905666 |
6 SubmittersRCV000591976RCV001130471RCV001130472RCV001347460RCV002532610 |
NM_203486.3(DLL3):c.1758+57C>T
|
SNV Germline |
Chr19:39507971 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly DLL3-related disorder |
Criteria Provided Conflicting Classifications |
CA9432539 |
rs_147582946 |
4 SubmittersRCV000611556RCV000883842RCV001135895RCV001135896RCV003945532 |
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)
|
SNV Germline |
Chr15:89776368 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1555439013 |
3 SubmittersRCV000670586RCV001385866 |
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)
|
SNV Unknown |
Chr15:89776943 |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_1555439118 |
1 SubmittersRCV000673076 |
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)
|
SNV Unknown |
Chr15:89776405 |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_912110093 |
1 SubmittersRCV000667887 |
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)
|
SNV Unknown |
Chr15:89776607 |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_762067626 |
1 SubmittersRCV000673463 |
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)
|
SNV Germline |
Chr15:89776586 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_538996447 |
2 SubmittersRCV000666082RCV001380742 |
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)
|
SNV Unknown |
Chr15:89777094 |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_1555439152 |
1 SubmittersRCV000669986 |
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)
|
SNV Germline |
Chr15:89776473 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1206731716 |
2 SubmittersRCV000671724RCV001212144 |
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)
|
SNV Germline |
Chr15:89776706 |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1555439063 |
2 SubmittersRCV000666771RCV002530694 |
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)
|
SNV Unknown |
Chr17:8123083 |
Likely pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_1332109041 |
1 SubmittersRCV000677670 |
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)
|
SNV Unknown |
Chr19:39502939 |
Likely pathogenic |
Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1447189148 |
2 SubmittersRCV000677675 |
NM_001040167.2(LFNG):c.327G>T (p.Pro109=)
|
SNV Germline |
Chr7:2520188 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 3, autosomal recessive |
Criteria Provided Conflicting Classifications |
|
rs_376342763 |
2 SubmittersRCV000728394RCV001449422 |
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)
|
SNV Germline |
Chr7:2525433 |
Pathogenic |
Spondylocostal dysostosis 3, autosomal recessive |
No Assertion Criteria Provided |
|
rs_1211456697 |
1 SubmittersRCV000758081 |
NM_004608.4(TBX6):c.356G>A (p.Arg119His)
|
SNV Germline |
Chr16:30089208 |
Conflicting classifications of pathogenicity |
Scoliosis Spondylocostal dysostosis 5 Condition: not provided TBX6-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_200175825 |
4 SubmittersRCV000855734RCV001280811RCV002538881RCV003396491 |
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
SNV Germline |
Chr15:89776525 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Conflicting Classifications |
|
rs_894593728 |
3 SubmittersRCV000886881RCV001120011 |
NM_203486.3(DLL3):c.1623G>A (p.Pro541=)
|
SNV Germline |
Chr19:39507568 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly |
Criteria Provided Conflicting Classifications |
|
rs_200988915 |
2 SubmittersRCV000882778RCV001134423RCV001134424 |
NM_203486.3(DLL3):c.1123C>T (p.Leu375=)
|
SNV Germline |
Chr19:39507068 |
Conflicting classifications of pathogenicity |
Condition: not provided Syndactyly Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Conflicting Classifications |
|
rs_777253263 |
2 SubmittersRCV000913682RCV001134302RCV001134301 |
NM_001039958.2(MESP2):c.189C>G (p.Ala63=)
|
SNV Germline |
Chr15:89776546 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 2, autosomal recessive MESP2-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_534821207 |
4 SubmittersRCV000928378RCV001120012RCV003960471 |
NM_203486.3(DLL3):c.352-15C>T
|
SNV Germline |
Chr19:39500600 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_201902809 |
3 SubmittersRCV001001727RCV001131086RCV002068777 |
NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter)
|
SNV Germline |
Chr16:30086388 |
Pathogenic |
Spondylocostal dysostosis 5 |
Criteria Provided Single Submitter |
|
rs_369015359 |
1 SubmittersRCV001254941 |
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
|
SNV Germline |
Chr15:89776874 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 2, autosomal recessive Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_374604155 |
4 SubmittersRCV001048620RCV001120322RCV003363074 |
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)
|
SNV Germline |
Chr15:89778157 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 2, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_370227491 |
2 SubmittersRCV001118583RCV001448042 |
NM_203486.3(DLL3):c.564G>T (p.Thr188=)
|
SNV Germline |
Chr19:39502969 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided DLL3-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_767676342 |
3 SubmittersRCV001135535RCV001135536RCV002558291RCV003945851 |
NM_203486.3(DLL3):c.615C>T (p.Arg205=)
|
SNV Germline |
Chr19:39503020 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_780088167 |
2 SubmittersRCV001130470RCV001130469RCV001391974 |
NM_203486.3(DLL3):c.933G>A (p.Val311=)
|
SNV Germline |
Chr19:39505291 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_760420806 |
2 SubmittersRCV001135672RCV001135671RCV003117779 |
NM_203486.3(DLL3):c.969C>T (p.Asn323=)
|
SNV Germline |
Chr19:39505327 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_139638161 |
2 SubmittersRCV001128676RCV001128677RCV002070499 |
NM_203486.3(DLL3):c.984C>T (p.Val328=)
|
SNV Germline |
Chr19:39505342 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_138378695 |
3 SubmittersRCV001128680RCV001128679RCV003546638 |
NM_203486.3(DLL3):c.1140C>G (p.Arg380=)
|
SNV Germline |
Chr19:39507085 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_934368057 |
2 SubmittersRCV001134305RCV001134306RCV003769261 |
NM_203486.3(DLL3):c.1302C>T (p.Ala434=)
|
SNV Germline |
Chr19:39507247 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_750457185 |
2 SubmittersRCV001135782RCV001135783RCV002556889 |
NM_203486.3(DLL3):c.1455C>T (p.Pro485=)
|
SNV Germline |
Chr19:39507400 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_759560622 |
2 SubmittersRCV001131442RCV001131443RCV003736995 |
NM_203486.3(DLL3):c.652+15C>T
|
SNV Germline |
Chr19:39503072 |
Conflicting classifications of pathogenicity |
Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_528327447 |
2 SubmittersRCV001131203RCV001131202RCV002070528 |
NM_203486.3(DLL3):c.1674-9C>T
|
SNV Germline |
Chr19:39507821 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_2079653502 |
2 SubmittersRCV001134425RCV001134426RCV003669197 |
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp)
|
SNV Germline |
Chr7:2526869 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 3, autosomal recessive Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_147110861 |
4 SubmittersRCV001247728RCV001796413RCV002568681 |
NM_203486.3(DLL3):c.409+6T>C
|
SNV Germline |
Chr19:39500678 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive DLL3-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_995675341 |
3 SubmittersRCV001370554RCV001286799RCV003918823 |
NM_004608.4(TBX6):c.914-2A>C
|
SNV Germline |
Chr16:30086697 |
Likely pathogenic |
Spondylocostal dysostosis 5 |
Criteria Provided Single Submitter |
|
rs_762321473 |
1 SubmittersRCV001783853 |
NM_203486.3(DLL3):c.871-1G>A
|
SNV Germline |
Chr19:39505228 |
Pathogenic |
Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Single Submitter |
|
rs_2144761828 |
1 SubmittersRCV001806346 |
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg)
|
SNV Germline |
Chr7:2520229 |
Conflicting classifications of pathogenicity |
Spondylocostal dysostosis 3, autosomal recessive Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_758997792 |
2 SubmittersRCV001927448RCV003167008 |
NM_203486.3(DLL3):c.915C>T (p.Tyr305=)
|
SNV Germline |
Chr19:39505273 |
Conflicting classifications of pathogenicity |
Condition: not provided Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Conflicting Classifications |
|
rs_372702131 |
2 SubmittersRCV002124348RCV003146518 |
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
|
SNV Germline |
Chr15:89776440 |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003236476 |
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
|
SNV Germline |
Chr19:39507257 |
Likely pathogenic |
Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003314120 |
NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)
|
SNV Germline |
Chr16:30086227 |
Likely pathogenic |
Spondylocostal dysostosis 5 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003986016 |
NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)
|
SNV Germline |
Chr19:39502879 |
Likely pathogenic |
Spondylocostal dysostosis 1, autosomal recessive |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003990878 |
NM_001040167.2(LFNG):c.434C>T (p.Thr145Met)
|
SNV Germline |
Chr7:2524696 |
Likely pathogenic |
Spondylocostal dysostosis 3, autosomal recessive |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004515773 |