Total 27 pathogenic variants reported for Reticular dysgenesis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001625.4(AK2):c.1A>G (p.Met1Val)	SNV Germline	Chr1:33036828	Pathogenic	Reticular dysgenesis Severe combined immunodeficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA127991	rs_137853206	4 SubmittersRCV000019914 RCV005406755
NM_001625.4(AK2):c.331-1G>A	SNV Germline	Chr1:33021462	Pathogenic	Reticular dysgenesis	No Assertion Criteria Provided	CA339702158	rs_1192619329	1 SubmittersRCV000019915
NM_001625.4(AK2):c.498+1G>A	SNV Germline	Chr1:33014521	Pathogenic/Likely pathogenic	Reticular dysgenesis Severe combined immunodeficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA747106	rs_777503956	4 SubmittersRCV000019917 RCV001778659
NM_001625.4(AK2):c.494A>G (p.Asp165Gly)	SNV Germline	Chr1:33014526	Pathogenic	Reticular dysgenesis	Criteria Provided Single Submitter	CA127994	rs_267606643	2 SubmittersRCV000019918
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)	SNV Germline	Chr1:33013345	Likely pathogenic	Reticular dysgenesis Severe combined immunodeficiency disease	Criteria Provided Single Submitter	CA128000	rs_267606645	2 SubmittersRCV000019920 RCV002281711
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)	SNV Germline	Chr1:33021616	Pathogenic/Likely pathogenic	Reticular dysgenesis Severe combined immunodeficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA128003	rs_267606648	4 SubmittersRCV000019922 RCV005055518
NM_001625.4(AK2):c.697A>T (p.Lys233Ter)	SNV Germline	Chr1:33013204	Pathogenic	Reticular dysgenesis	No Assertion Criteria Provided	CA128006	rs_267606646	1 SubmittersRCV000019923
NM_001625.4(AK2):c.25G>T (p.Glu9Ter)	SNV Germline	Chr1:33036804	Pathogenic	Reticular dysgenesis	No Assertion Criteria Provided	CA128008	rs_267606647	1 SubmittersRCV000019924
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)	SNV Germline	Chr1:33013356	Pathogenic/Likely pathogenic	Condition: not provided Reticular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA235742	rs_559947967	4 SubmittersRCV000171151 RCV001283780
NM_001625.4(AK2):c.219+19A>G	SNV Germline	Chr1:33024423	Conflicting classifications of pathogenicity	Condition: not provided Reticular dysgenesis	Criteria Provided Conflicting Classifications	CA747227	rs_148975919	2 SubmittersRCV000483208 RCV001520137
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	SNV Germline	Chr1:33036780	Conflicting classifications of pathogenicity	Reticular dysgenesis Condition: not provided AK2-related disorder	Criteria Provided Conflicting Classifications	CA747279	rs_138577419	5 SubmittersRCV000537869 RCV001726221 RCV003942766
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)	SNV Germline	Chr1:33021406	Conflicting classifications of pathogenicity	not specified Condition: not provided Reticular dysgenesis AK2-related disorder	Criteria Provided Conflicting Classifications	CA747168	rs_61750965	5 SubmittersRCV000607388 RCV000635196 RCV001083908 RCV003917972
NM_001625.4(AK2):c.330+5G>A	SNV Germline	Chr1:33021588	Pathogenic	Reticular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA417068415	rs_1569646997	2 SubmittersRCV000819483
NM_001625.4(AK2):c.202A>G (p.Met68Val)	SNV Germline	Chr1:33024459	Conflicting classifications of pathogenicity	Reticular dysgenesis AK2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA747232	rs_548856916	4 SubmittersRCV000898850 RCV003958102 RCV004792576
NM_001625.4(AK2):c.524G>C (p.Arg175Pro)	SNV Germline	Chr1:33013377	Likely pathogenic	Reticular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA339699537	rs_1243124080	2 SubmittersRCV001037044
NM_001625.4(AK2):c.409C>T (p.Arg137Ter)	SNV Germline	Chr1:33021383	Pathogenic	Reticular dysgenesis	Criteria Provided Single Submitter	CA339701971	rs_1476680673	1 SubmittersRCV001974730
NM_001625.4(AK2):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:33036826	Pathogenic	Reticular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV005028490
NM_001625.4(AK2):c.425+1G>T	SNV Germline	Chr1:33021366	Likely pathogenic	Reticular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV005201858