Total 11 pathogenic variants reported for Cardiospondylocarpofacial syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_145331.3(MAP3K7):c.328G>T (p.Gly110Cys)	SNV Germline	Chr6:90561637	Likely pathogenic	Cardiospondylocarpofacial syndrome Condition: not provided	Criteria Provided Single Submitter	CA10588011	rs_886039235	2 SubmittersRCV000254563 RCV001859473
NM_145331.3(MAP3K7):c.721T>A (p.Trp241Arg)	SNV Germline	Chr6:90553473	Pathogenic	Cardiospondylocarpofacial syndrome Condition: not provided	Criteria Provided Single Submitter	CA10588013	rs_886039237	2 SubmittersRCV000254561 RCV004816462
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His)	SNV Germline	Chr6:90568607	Conflicting classifications of pathogenicity	Cardiospondylocarpofacial syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA143017447	rs_929527043	2 SubmittersRCV000850358 RCV006459976
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	SNV Germline	Chr6:90571785	Conflicting classifications of pathogenicity	Cardiospondylocarpofacial syndrome	Criteria Provided Conflicting Classifications	CA365018304	rs_1776911945	2 SubmittersRCV001194646
NM_145331.3(MAP3K7):c.737-7A>G	SNV Germline	Chr6:90552186	Pathogenic	Cardiospondylocarpofacial syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1139659736	rs_1776199533	3 SubmittersRCV001251209 RCV001655703
NM_145331.3(MAP3K7):c.815C>A (p.Ser272Tyr)	SNV Unknown	Chr6:90552101	Likely pathogenic	Frontometaphyseal dysplasia 2 Cardiospondylocarpofacial syndrome	Criteria Provided Single Submitter	CA365011779	rs_2127974446	1 SubmittersRCV001527388
NM_145331.3(MAP3K7):c.616T>G (p.Tyr206Asp)	SNV Germline	Chr6:90553578	Pathogenic	Cardiospondylocarpofacial syndrome	Criteria Provided Single Submitter	CA365012676	rs_2127975274	1 SubmittersRCV001836671
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)	SNV Germline	Chr6:90553563	Conflicting classifications of pathogenicity	Cardiospondylocarpofacial syndrome	Criteria Provided Conflicting Classifications	CA365012593	rs_2481822388	2 SubmittersRCV002470347