Total 13 pathogenic variants reported for Congenital hypotrichosis with juvenile macular dystrophy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001793.6(CDH3):c.1508G>A (p.Arg503His)	SNV Germline	Chr16:68685288	Pathogenic	Congenital hypotrichosis with juvenile macular dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA127316	rs_121434542	3 SubmittersRCV000019206 RCV001386870 RCV004814909
NM_001793.6(CDH3):c.1795+1G>C	SNV Germline	Chr16:68687737	Pathogenic	Congenital hypotrichosis with juvenile macular dystrophy	No Assertion Criteria Provided	CA396455045	rs_752131891	1 SubmittersRCV000824709
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)	SNV Germline	Chr16:68682368	Likely pathogenic	Congenital hypotrichosis with juvenile macular dystrophy Condition: not provided	Criteria Provided Single Submitter	CA396453064	rs_1597809479	2 SubmittersRCV000824812 RCV002536035
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)	SNV Germline	Chr16:68691842	Likely pathogenic	Congenital hypotrichosis with juvenile macular dystrophy	No Assertion Criteria Provided	CA396455682	rs_1597817636	1 SubmittersRCV000985062
NM_001793.6(CDH3):c.307C>T (p.Arg103Ter)	SNV Germline	Chr16:68678194	Pathogenic	Retinal dystrophy Condition: not provided Congenital hypotrichosis with juvenile macular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA396448652	rs_1157108621	4 SubmittersRCV001073805 RCV001784631 RCV004813151
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)	SNV Germline	Chr16:68691732	Conflicting classifications of pathogenicity	EEM syndrome Condition: not provided EEM syndrome Congenital hypotrichosis with juvenile macular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8129494	rs_367858076	5 SubmittersRCV001116138 RCV001213708 RCV002482215 RCV005792012
NM_001793.6(CDH3):c.160+1G>A	SNV Germline	Chr16:68645751	Pathogenic	Condition: not provided Congenital hypotrichosis with juvenile macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA396455404	rs_1474181679	4 SubmittersRCV001780469 RCV002300590 RCV004815631
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter)	SNV Germline	Chr16:68678876	Pathogenic	Condition: not provided Congenital hypotrichosis with juvenile macular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA8129091	rs_761941770	2 SubmittersRCV001960593 RCV002300633
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter)	SNV Germline	Chr16:68682391	Pathogenic	Condition: not provided Congenital hypotrichosis with juvenile macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA8129251	rs_779888126	3 SubmittersRCV001975159 RCV002464042 RCV004816834
NM_001793.6(CDH3):c.2122G>T (p.Glu708Ter)	SNV Germline	Chr16:68695374	Likely pathogenic	EEM syndrome Congenital hypotrichosis with juvenile macular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005360343
NM_001793.6(CDH3):c.2158C>T (p.Arg720Ter)	SNV Germline	Chr16:68695801	Pathogenic	EEM syndrome Congenital hypotrichosis with juvenile macular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005360344