Total 7 pathogenic variants reported for Persistent hyperplastic primary vitreous

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)	SNV Germline	Chr10:68231532	Pathogenic	Persistent hyperplastic primary vitreous, autosomal recessive	No Assertion Criteria Provided	CA170628	rs_587777664	1 SubmittersRCV000133577
NM_145178.4(ATOH7):c.136A>C (p.Asn46His)	SNV Germline	Chr10:68231542	Pathogenic	Persistent hyperplastic primary vitreous, autosomal recessive	No Assertion Criteria Provided	CA170630	rs_587777666	1 SubmittersRCV000133579
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)	SNV Germline	Chr12:56454517	Pathogenic	Developmental cataract Cataract 15 multiple types Persistent hyperplastic primary vitreous	Criteria Provided Multiple Submitters No Conflicts	CA278813	rs_864309693	3 SubmittersRCV000203320 RCV001390816 RCV002512064
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	SNV Germline	Chr7:120806619	Pathogenic	Exudative vitreoretinopathy 5 Persistent hyperplastic primary vitreous, autosomal recessive Atrophia bulborum hereditaria Familial exudative vitreoretinopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10581517	rs_878853243	3 SubmittersRCV000225062 RCV000225079 RCV000225020 RCV001003234 RCV003328570
NM_000266.4(NDP):c.314C>T (p.Ala105Val)	SNV Unknown	ChrX:43949887	Likely pathogenic	Persistent hyperplastic primary vitreous Short lingual frenulum Nystagmus High myopia	Criteria Provided Single Submitter	CA16043592	rs_1057518836	1 SubmittersRCV000415329
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)	SNV Germline	Chr10:68231524	Likely pathogenic	Persistent hyperplastic primary vitreous, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003232884