Total 18 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	CA1836897	rs_201346406	3 SubmittersRCV000955294 RCV001331778
NM_152515.5(CKAP2L):c.1822+1G>A	SNV Germline	Chr2:112742705	Pathogenic	Filippi syndrome	Criteria Provided Single Submitter	CA348291762	rs_1680053234	1 SubmittersRCV001264831
NM_152515.5(CKAP2L):c.2066G>A (p.Arg689His)	SNV Germline	Chr2:112738995	Pathogenic	Condition: not provided Filippi syndrome	Criteria Provided Single Submitter	CA1836472	rs_201984824	2 SubmittersRCV001344516 RCV001730757
NM_152515.5(CKAP2L):c.1186A>G (p.Ile396Val)	SNV Germline	Chr2:112756185	Conflicting classifications of pathogenicity	Condition: not provided Filippi syndrome	Criteria Provided Conflicting Classifications	CA1836707	rs_772245567	2 SubmittersRCV002632373 RCV004725546
NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)	SNV Germline	Chr2:112746574	Likely pathogenic	Filippi syndrome	Criteria Provided Single Submitter	CA53678607	rs_766585648	1 SubmittersRCV003989342
NM_152515.5(CKAP2L):c.46C>T (p.Gln16Ter)	SNV Germline	Chr2:112762561	Pathogenic	Filippi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005235822