Total 26 pathogenic variants reported for Paroxysmal nocturnal hemoglobinuria

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	SNV Germline/somatic	ChrX:15331637	Likely pathogenic	Paroxysmal nocturnal hemoglobinuria Condition: not provided	Criteria Provided Single Submitter	CA120841	rs_199422232	2 SubmittersRCV001799595 RCV002460890
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)	SNV Somatic	ChrX:15331768	Pathogenic	Paroxysmal nocturnal hemoglobinuria	No Assertion Criteria Provided	CA120846	rs_199422233	1 SubmittersRCV001799598
NM_002641.4(PIGA):c.1188+1G>A	SNV Somatic	ChrX:15324664	Pathogenic	Paroxysmal nocturnal hemoglobinuria	No Assertion Criteria Provided		rs_2147717286	1 SubmittersRCV001799602
NR_001566.1(TERC):n.-100C>G	SNV Not provided	Chr3:169765160	Pathogenic	Paroxysmal nocturnal hemoglobinuria 1	No Assertion Criteria Provided	CA344464	rs_199422256	1 SubmittersRCV000034302
NM_002641.4(PIGA):c.98A>G (p.His33Arg)	SNV Germline	ChrX:15331833	Conflicting classifications of pathogenicity	Inborn genetic diseases Multiple congenital anomalies-hypotonia-seizures syndrome 2 Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Conflicting Classifications	CA204802	rs_797044924	5 SubmittersRCV000190762 RCV001731150 RCV003992224
NM_002641.4(PIGA):c.368C>T (p.Thr123Met)	SNV Germline	ChrX:15331563	Conflicting classifications of pathogenicity	Condition: not provided Paroxysmal nocturnal hemoglobinuria 1 Multiple congenital anomalies-hypotonia-seizures syndrome 2 Multiple congenital anomalies-hypotonia-seizures syndrome 2	Criteria Provided Conflicting Classifications	CA412340314	rs_1555945480	3 SubmittersRCV000497905 RCV001249629 RCV001341771
NM_002641.4(PIGA):c.145G>A (p.Val49Met)	SNV Germline	ChrX:15331786	Pathogenic/Likely pathogenic	Multiple congenital anomalies-hypotonia-seizures syndrome 2 Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Multiple Submitters No Conflicts		rs_1569180100	3 SubmittersRCV000761517 RCV002249463
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)	SNV Germline	ChrX:15331575	Conflicting classifications of pathogenicity	Multiple congenital anomalies-hypotonia-seizures syndrome 2 Condition: not provided PIGA-related disorder Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Conflicting Classifications			6 SubmittersRCV001004672 RCV001552602 RCV003983820 RCV003989621
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)	SNV Germline	ChrX:15321606	Likely pathogenic	Paroxysmal nocturnal hemoglobinuria 1 Multiple congenital anomalies-hypotonia-seizures syndrome 2	Criteria Provided Single Submitter		rs_1921817445	1 SubmittersRCV001249628
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)	SNV Germline	ChrX:15324867	Likely pathogenic	Paroxysmal nocturnal hemoglobinuria 1 Multiple congenital anomalies-hypotonia-seizures syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_1921924356	2 SubmittersRCV001335962 RCV001775167
NM_002641.4(PIGA):c.849-19C>T	SNV Germline	ChrX:15325171	Conflicting classifications of pathogenicity	Multiple congenital anomalies-hypotonia-seizures syndrome 2 Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Conflicting Classifications		rs_780237513	2 SubmittersRCV002189423 RCV002222078
NM_002641.4(PIGA):c.109A>G (p.Met37Val)	SNV Germline	ChrX:15331822	Likely pathogenic	Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Single Submitter		rs_2147724073	1 SubmittersRCV002249131
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)	SNV Germline	ChrX:15331581	Pathogenic	Paroxysmal nocturnal hemoglobinuria 1	Criteria Provided Single Submitter		rs_2147723760	1 SubmittersRCV002250234
NM_002641.4(PIGA):c.1188+1G>C	SNV Somatic	ChrX:15324664	Likely pathogenic	Paroxysmal nocturnal hemoglobinuria 1	No Assertion Criteria Provided			1 SubmittersRCV003228230