Total 6 pathogenic variants reported for Lethal congenital contracture syndrome 9

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	SNV Germline	Chr6:142309560	Pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter	CA200210	rs_749355583	3 SubmittersRCV000172977 RCV000186598
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	SNV Germline	Chr6:142408187	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA200214	rs_793888525	3 SubmittersRCV000172979 RCV000186600
NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)	SNV Germline	Chr6:142405779	Pathogenic	Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter		rs_2115031969	1 SubmittersRCV001839465
NM_198569.3(ADGRG6):c.1424+2T>A	SNV Germline	Chr6:142393960	Likely pathogenic	Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter			1 SubmittersRCV004527244