Total 10 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	Condition: not provided Congenital hypotrichosis with juvenile macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA127316	rs_121434542	3 SubmittersRCV001386870 RCV000019206 RCV004814909
NM_001793.6(CDH3):c.1795+1G>C	SNV Germline	Chr16:68687737	Pathogenic	Congenital hypotrichosis with juvenile macular dystrophy	No Assertion Criteria Provided		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		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		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		rs_1157108621	3 SubmittersRCV001073805 RCV001784631 RCV004813151
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		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		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		rs_779888126	3 SubmittersRCV001975159 RCV002464042 RCV004816834