Total 29 pathogenic variants reported for Renpenning syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys)	SNV Germline	ChrX:48901944	Pathogenic	Renpenning syndrome	Criteria Provided Single Submitter	CA121289	rs_121917899	2 SubmittersRCV000011732
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu)	SNV Germline	ChrX:48903017	Conflicting classifications of pathogenicity	Intellectual disability Renpenning syndrome	Criteria Provided Conflicting Classifications	CA10581463	rs_878853145	2 SubmittersRCV000224749 RCV005628241
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	SNV Germline	ChrX:48902740	Pathogenic/Likely pathogenic	Condition: not provided Renpenning syndrome PQBP1-related disorder Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA412891085	rs_1557041672	10 SubmittersRCV000656312 RCV000680077 RCV003892507 RCV005626141
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)	SNV Germline	ChrX:48902337	Conflicting classifications of pathogenicity	Renpenning syndrome Condition: not provided PQBP1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10405915	rs_201489630	5 SubmittersRCV000660228 RCV001584519 RCV003403521 RCV004026049
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)	SNV Germline	ChrX:48902481	Conflicting classifications of pathogenicity	Renpenning syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10405936	rs_782792216	3 SubmittersRCV000680076 RCV001766459
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	SNV Germline	ChrX:48902403	Likely pathogenic	Renpenning syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA412890269	rs_1602330420	3 SubmittersRCV001007842 RCV001266466
NM_001032382.2(PQBP1):c.642-9C>A	SNV Germline	ChrX:48902919	Conflicting classifications of pathogenicity	Renpenning syndrome Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10405978	rs_782015028	3 SubmittersRCV001166218 RCV003574854 RCV005908830
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)	SNV Unknown	ChrX:48902777	Likely pathogenic	Renpenning syndrome	Criteria Provided Single Submitter	CA412891269	rs_2063444025	1 SubmittersRCV001197974
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)	SNV Germline	ChrX:48903013	Likely pathogenic	Renpenning syndrome Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412891754	rs_2063451959	3 SubmittersRCV001255844 RCV003127736 RCV004697093
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)	SNV Germline	ChrX:48898541	Likely pathogenic	Renpenning syndrome	Criteria Provided Single Submitter	CA412886384	rs_2063344708	1 SubmittersRCV001332660
NM_001032382.2(PQBP1):c.292+1G>A	SNV Germline	ChrX:48902043	Pathogenic/Likely pathogenic	Condition: not provided Renpenning syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412889132	rs_2147472456	2 SubmittersRCV002027600 RCV002253997
NM_001032382.2(PQBP1):c.530G>A (p.Arg177His)	SNV Germline	ChrX:48902470	Conflicting classifications of pathogenicity	Renpenning syndrome PQBP1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA329097197	rs_1047322213	3 SubmittersRCV002071019 RCV003403668 RCV006435247
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)	SNV Germline	ChrX:48901983	Likely pathogenic	Renpenning syndrome	Criteria Provided Single Submitter	CA412888858	rs_2519613503	1 SubmittersRCV002465378
NM_001032382.2(PQBP1):c.28C>G (p.Arg10Gly)	SNV Germline	ChrX:48898537	Likely pathogenic	Renpenning syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006605466