Total 11 pathogenic variants reported for Hemolytic anemia due to adenylate kinase deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000476.3(AK1):c.382C>T (p.Arg128Trp)	SNV Germline	Chr9:127868455	Pathogenic	Hemolytic anemia due to adenylate kinase deficiency	No Assertion Criteria Provided	CA128011	rs_104894101	1 SubmittersRCV000019925
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	SNV Germline	Chr9:127871828	Likely pathogenic	Hemolytic anemia due to adenylate kinase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA128012	rs_104894102	3 SubmittersRCV000019926 RCV006277657
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)	SNV Germline	Chr9:127868346	Pathogenic	Hemolytic anemia due to adenylate kinase deficiency Hepatocellular carcinoma	No Assertion Criteria Provided	CA128014	rs_137853203	2 SubmittersRCV000019927 RCV005887577
NM_000476.3(AK1):c.118G>A (p.Gly40Arg)	SNV Germline	Chr9:127872779	Pathogenic	Hemolytic anemia due to adenylate kinase deficiency	No Assertion Criteria Provided	CA128015	rs_137853204	1 SubmittersRCV000019928
NM_000476.3(AK1):c.190G>A (p.Gly64Arg)	SNV Germline	Chr9:127872707	Pathogenic	Hemolytic anemia due to adenylate kinase deficiency	No Assertion Criteria Provided	CA128016	rs_137853205	1 SubmittersRCV000019929
NM_000476.3(AK1):c.301C>A (p.Gln101Lys)	SNV Germline	Chr9:127871846	Pathogenic	Hemolytic anemia due to adenylate kinase deficiency Adenylate kinase deficiency	Criteria Provided Single Submitter	CA374949954	rs_2131401746	1 SubmittersRCV001506969 RCV001526690
NM_000476.3(AK1):c.166A>T (p.Lys56Ter)	SNV Germline	Chr9:127872731	Likely pathogenic	Hemolytic anemia due to adenylate kinase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005635122
NM_000476.3(AK1):c.248A>G (p.Lys83Arg)	SNV Germline	Chr9:127871899	Conflicting classifications of pathogenicity	Condition: not provided Hemolytic anemia due to adenylate kinase deficiency	Criteria Provided Conflicting Classifications			3 SubmittersRCV006281306 RCV006451600