Total 8 pathogenic variants reported for X-linked erythropoietic protoporphyria

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	SNV Germline	ChrX:55009187	Conflicting classifications of pathogenicity	X-linked erythropoietic protoporphyria Condition: not provided X-linked sideroblastic anemia 1 Developmental and epileptic encephalopathy, 36	Criteria Provided Conflicting Classifications	CA323962	rs_139596860	7 SubmittersRCV000033870 RCV000199418 RCV000990842 RCV004698465
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)	SNV Germline	ChrX:55009302	Pathogenic	X-linked erythropoietic protoporphyria	No Assertion Criteria Provided	CA264222	rs_397514730	1 SubmittersRCV000054488
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)	SNV Germline	ChrX:55020482	Conflicting classifications of pathogenicity	X-linked sideroblastic anemia 1 Condition: not provided not specified X-linked erythropoietic protoporphyria Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10428394	rs_753156183	6 SubmittersRCV000323663 RCV000842471 RCV001821131 RCV005365263 RCV005328257
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)	SNV Germline	ChrX:55013519	Conflicting classifications of pathogenicity	X-linked sideroblastic anemia 1 Condition: not provided not specified X-linked erythropoietic protoporphyria	Criteria Provided Conflicting Classifications	CA10428272	rs_199826743	6 SubmittersRCV000376222 RCV001572292 RCV001821130 RCV005355685
NM_000032.5(ALAS2):c.304+2T>C	SNV Germline	ChrX:55024716	Likely pathogenic	X-linked erythropoietic protoporphyria	Criteria Provided Single Submitter			1 SubmittersRCV004720687