Total 12 pathogenic variants reported for Deficiency of ribose-5-phosphate isomerase

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_144563.3(RPIA):c.404C>T (p.Ala135Val)	SNV Germline	Chr2:88729279	Pathogenic	Deficiency of ribose-5-phosphate isomerase	No Assertion Criteria Provided	CA214939	rs_121918591	1 SubmittersRCV000013882
NM_144563.3(RPIA):c.527+11T>C	SNV Germline	Chr2:88734627	Conflicting classifications of pathogenicity	Deficiency of ribose-5-phosphate isomerase Condition: not provided	Criteria Provided Conflicting Classifications	CA1755242	rs_777127840	2 SubmittersRCV000329535 RCV006462471
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	SNV Germline	Chr2:88736565	Likely pathogenic	Deficiency of ribose-5-phosphate isomerase Condition: not provided	Criteria Provided Single Submitter	CA347588811	rs_1558699183	2 SubmittersRCV000785983 RCV005243357
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	SNV Germline	Chr2:88691703	Conflicting classifications of pathogenicity	Deficiency of ribose-5-phosphate isomerase Condition: not provided	Criteria Provided Conflicting Classifications	CA1755044	rs_559380161	2 SubmittersRCV001140912 RCV001858922
NM_144563.3(RPIA):c.57C>T (p.Pro19=)	SNV Germline	Chr2:88691755	Conflicting classifications of pathogenicity	Deficiency of ribose-5-phosphate isomerase Condition: not provided	Criteria Provided Conflicting Classifications	CA1755067	rs_780586313	2 SubmittersRCV001140914 RCV002559365
NM_144563.3(RPIA):c.789C>T (p.Asp263=)	SNV Germline	Chr2:88738027	Conflicting classifications of pathogenicity	Deficiency of ribose-5-phosphate isomerase Condition: not provided	Criteria Provided Conflicting Classifications	CA1755334	rs_368582524	3 SubmittersRCV001142758 RCV002070712
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	SNV Germline	Chr2:88691951	Likely pathogenic	Deficiency of ribose-5-phosphate isomerase	Criteria Provided Single Submitter	CA347764557	rs_1399404493	1 SubmittersRCV001193231
NM_144563.3(RPIA):c.347-1G>A	SNV Germline	Chr2:88700008	Pathogenic	Deficiency of ribose-5-phosphate isomerase	Criteria Provided Single Submitter	CA347765752	rs_1422698928	1 SubmittersRCV001193230
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)	SNV Germline	Chr2:88738008	Likely pathogenic	Deficiency of ribose-5-phosphate isomerase	Criteria Provided Single Submitter	CA347590639	rs_2104137690	1 SubmittersRCV001806392
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)	SNV Germline	Chr2:88729326	Pathogenic	Deficiency of ribose-5-phosphate isomerase Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA1755206	rs_760452079	2 SubmittersRCV002240128 RCV003365714
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)	SNV Germline	Chr2:88736617	Pathogenic	Deficiency of ribose-5-phosphate isomerase	Criteria Provided Single Submitter	CA347589050	rs_1673318855	1 SubmittersRCV003479695