Total 13 pathogenic variants reported for CEDNIK syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	SNV Germline	Chr22:20859112	Pathogenic	Condition: not provided Hypomyelinating leukodystrophy 2 CEDNIK syndrome	Criteria Provided Single Submitter	CA10603380	rs_886041240	3 SubmittersRCV000280099 RCV000454300 RCV002251740
NM_004782.4(SNAP29):c.6A>G (p.Ser2=)	SNV Germline	Chr22:20859116	Conflicting classifications of pathogenicity	CEDNIK syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10116981	rs_770386845	2 SubmittersRCV000283266 RCV003678995
NM_004782.4(SNAP29):c.550A>G (p.Met184Val)	SNV Germline	Chr22:20883500	Conflicting classifications of pathogenicity	CEDNIK syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10117180	rs_770234475	2 SubmittersRCV000367997 RCV003243096
NM_004782.4(SNAP29):c.240G>A (p.Glu80=)	SNV Germline	Chr22:20870339	Conflicting classifications of pathogenicity	CEDNIK syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10117086	rs_528593119	2 SubmittersRCV000343944 RCV003765975
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)	SNV Germline	Chr22:20887681	Likely pathogenic	Condition: not provided CEDNIK syndrome	Criteria Provided Single Submitter	CA16621038	rs_1064795236	2 SubmittersRCV000478546 RCV002251743
NM_004782.4(SNAP29):c.238-12C>T	SNV Germline	Chr22:20870325	Conflicting classifications of pathogenicity	CEDNIK syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_373576052	2 SubmittersRCV001149420 RCV003769715
NM_004782.4(SNAP29):c.620-6C>G	SNV Germline	Chr22:20887673	Conflicting classifications of pathogenicity	CEDNIK syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1397535065	2 SubmittersRCV001145131 RCV003769698
NM_004782.4(SNAP29):c.620-4G>A	SNV Germline	Chr22:20887675	Conflicting classifications of pathogenicity	CEDNIK syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199538534	3 SubmittersRCV001145132 RCV002070752 RCV002557109
NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)	SNV Germline	Chr22:20859228	Likely pathogenic	CEDNIK syndrome	Criteria Provided Single Submitter		rs_775445020	1 SubmittersRCV001806375