Total 14 pathogenic variants reported for Radial aplasia-thrombocytopenia syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005105.5(RBM8A):c.-21G>A	SNV Germline	Chr1:145927447	Pathogenic/Likely pathogenic/Pathogenic, low penetrance; other	Radial aplasia-thrombocytopenia syndrome Condition: not provided RBM8A-related disorder Inborn genetic diseases Fetal anomalies with a likely genetic cause	Criteria Provided Multiple Submitters No Conflicts	CA249745	rs_139428292	41 SubmittersRCV000023418 RCV000081257 RCV003390698 RCV005259982 RCV006645991
NM_005105.5(RBM8A):c.67+32G>C	SNV Germline	Chr1:145927328	Conflicting classifications of pathogenicity	Radial aplasia-thrombocytopenia syndrome Condition: not provided Global developmental delay Clinodactyly of the 5th finger Abnormal brain morphology RBM8A-related disorder Inborn genetic diseases Fetal anomalies with a likely genetic cause	Criteria Provided Conflicting Classifications	CA249835	rs_201779890	27 SubmittersRCV000023419 RCV000172898 RCV001270062 RCV003415732 RCV006362027 RCV006646093
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)	SNV Germline	Chr1:145925920	Pathogenic	Radial aplasia-thrombocytopenia syndrome	No Assertion Criteria Provided	CA342738	rs_397515389	2 SubmittersRCV000023421
NM_005105.5(RBM8A):c.*6C>G	SNV Germline	Chr1:145925876	Conflicting classifications of pathogenicity	Condition: not provided Radial aplasia-thrombocytopenia syndrome RBM8A-related disorder Fetal anomalies with a likely genetic cause Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA222836	rs_12079762	15 SubmittersRCV000081256 RCV002055193 RCV003398675 RCV006649896 RCV006362057
NM_005105.5(RBM8A):c.-19G>T	SNV Germline	Chr1:145927445	Pathogenic	Radial aplasia-thrombocytopenia syndrome	No Assertion Criteria Provided	CA1055219	rs_760383043	1 SubmittersRCV001072153
NM_005105.5(RBM8A):c.206-13C>A	SNV Germline	Chr1:145926631	Pathogenic	Radial aplasia-thrombocytopenia syndrome	No Assertion Criteria Provided	CA915941068	rs_1350809730	1 SubmittersRCV001072154
NM_005105.5(RBM8A):c.343-2A>G	SNV Unknown	Chr1:145926179	Pathogenic	Radial aplasia-thrombocytopenia syndrome	No Assertion Criteria Provided	CA342127680	rs_2101877791	1 SubmittersRCV001620129
NM_005105.5(RBM8A):c.67+34G>C	SNV Germline	Chr1:145927326	Pathogenic	Radial aplasia-thrombocytopenia syndrome	Criteria Provided Single Submitter	CA420251196	rs_1553756157	1 SubmittersRCV002250290
NM_005105.5(RBM8A):c.-19G>A	SNV Germline	Chr1:145927445	Pathogenic	Radial aplasia-thrombocytopenia syndrome	Criteria Provided Single Submitter	CA1055218	rs_760383043	1 SubmittersRCV002250291
NM_003846.3(PEX11B):c.338G>A (p.Arg113His)	SNV Germline	Chr1:145916853	Conflicting classifications of pathogenicity	Condition: not provided Radial aplasia-thrombocytopenia syndrome Peroxisome biogenesis disorder 14B	Criteria Provided Conflicting Classifications	CA342123175	rs_1553753971	2 SubmittersRCV003030091 RCV004731311
NM_005105.5(RBM8A):c.*6C>T	SNV Germline	Chr1:145925876	Pathogenic	Radial aplasia-thrombocytopenia syndrome	Criteria Provided Single Submitter	CA1055396	rs_12079762	1 SubmittersRCV003228720