Total 27 pathogenic variants reported for Sponastrime dysplasia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)	SNV Germline	Chr8:144435526	Pathogenic	Sponastrime dysplasia Condition: not provided TONSL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA187666692	rs_755575416	5 SubmittersRCV000790525 RCV002535818 RCV003411741
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter)	SNV Germline	Chr8:144436026	Pathogenic	Sponastrime dysplasia Condition: not provided	Criteria Provided Single Submitter	CA4942837	rs_769100855	3 SubmittersRCV000790526 RCV001873228
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro)	SNV Germline	Chr8:144432431	Pathogenic/Likely pathogenic	Sponastrime dysplasia	No Assertion Criteria Provided	CA372642190	rs_1586681982	2 SubmittersRCV000790527
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)	SNV Germline	Chr8:144440042	Conflicting classifications of pathogenicity	Sponastrime dysplasia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4943226	rs_563710728	7 SubmittersRCV000790528 RCV001873229 RCV004965731
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)	SNV Germline	Chr8:144440021	Conflicting classifications of pathogenicity	Sponastrime dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA4943221	rs_775551492	4 SubmittersRCV000790531 RCV001869237
NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln)	SNV Germline	Chr8:144437080	Conflicting classifications of pathogenicity	Sponastrime dysplasia Spondylometaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA4943104	rs_777654833	4 SubmittersRCV000790535 RCV004556067 RCV001869239
NM_013432.5(TONSL):c.122-5C>G	SNV Unknown	Chr8:144444029	Likely pathogenic	Sponastrime dysplasia	No Assertion Criteria Provided	CA1139660843	rs_1341244760	1 SubmittersRCV001261724
NM_013432.5(TONSL):c.460C>T (p.Gln154Ter)	SNV Germline	Chr8:144442795	Likely pathogenic	Sponastrime dysplasia	No Assertion Criteria Provided	CA187677233	rs_1026265047	1 SubmittersRCV001261722
NM_013432.5(TONSL):c.1156G>A (p.Val386Met)	SNV Germline	Chr8:144440726	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sponastrime dysplasia TONSL-related disorder	Criteria Provided Conflicting Classifications	CA4943372	rs_151056734	5 SubmittersRCV001370385 RCV002550103 RCV005050356 RCV003416287
NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter)	SNV Germline	Chr8:144438685	Pathogenic/Likely pathogenic	Sponastrime dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4943181	rs_761727821	2 SubmittersRCV001783891 RCV002544275
NM_013432.5(TONSL):c.787C>T (p.Arg263Ter)	SNV Germline	Chr8:144442115	Pathogenic	Sponastrime dysplasia Condition: not provided	Criteria Provided Single Submitter	CA4943496	rs_372806119	2 SubmittersRCV001843995 RCV002034721
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter)	SNV Germline	Chr8:144435810	Pathogenic/Likely pathogenic	Condition: not provided Sponastrime dysplasia TONSL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA187667106	rs_568942029	3 SubmittersRCV001938891 RCV004699565 RCV003416628
NM_013432.5(TONSL):c.2776-2A>G	SNV Germline	Chr8:144435552	Likely pathogenic	Sponastrime dysplasia	Criteria Provided Single Submitter	CA372650644	rs_2130847575	1 SubmittersRCV002240145
NM_013432.5(TONSL):c.3166C>T (p.Gln1056Ter)	SNV Germline	Chr8:144434199	Likely pathogenic	Sponastrime dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV004797222