Total 15 pathogenic variants reported for Filippi syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:112764597	Pathogenic	Filippi syndrome	No Assertion Criteria Provided	CA175011	rs_548949031	1 SubmittersRCV000149780
NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met)	SNV Germline	Chr2:112757209	Conflicting classifications of pathogenicity	Condition: not provided Filippi syndrome	Criteria Provided Conflicting Classifications		rs_201346406	3 SubmittersRCV000955294 RCV001331778
NM_152515.5(CKAP2L):c.1822+1G>A	SNV Germline	Chr2:112742705	Pathogenic	Filippi syndrome	Criteria Provided Single Submitter		rs_1680053234	1 SubmittersRCV001264831
NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)	SNV Germline	Chr2:112746574	Likely pathogenic	Filippi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003989342