Total 10 pathogenic variants reported for Prune belly syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)	SNV Germline	Chr17:12722936	Pathogenic	Megabladder, congenital Prune belly syndrome	No Assertion Criteria Provided	CA398243513	rs_1597782599	2 SubmittersRCV000984630 RCV000850243
NM_001375978.1(CHRM3):c.1560C>T (p.Cys520=)	SNV Germline	Chr1:239909011	Conflicting classifications of pathogenicity	Condition: not provided Prune belly syndrome	Criteria Provided Conflicting Classifications	CA1475951	rs_201554378	2 SubmittersRCV000911358 RCV005012393
NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr)	SNV Germline	ChrX:154352576	Likely pathogenic	Prune belly syndrome	Criteria Provided Single Submitter	CA415191955	rs_1603359205	1 SubmittersRCV000984547
NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)	SNV Germline	ChrX:154352243	Likely pathogenic	Prune belly syndrome	Criteria Provided Single Submitter	CA415189739	rs_1603359091	1 SubmittersRCV000985242
NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	SNV Germline	Chr1:239907803	Pathogenic	Prune belly syndrome	No Assertion Criteria Provided	CA345420935	rs_1680093659	1 SubmittersRCV001251074
NM_001375978.1(CHRM3):c.1240G>A (p.Val414Met)	SNV Germline	Chr1:239908691	Conflicting classifications of pathogenicity	Condition: not provided not specified Prune belly syndrome	Criteria Provided Conflicting Classifications	CA1475901	rs_145638222	3 SubmittersRCV002976557 RCV004065157 RCV005019534