Total 27 pathogenic variants reported for Nager syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005850.5(SF3B4):c.1A>G (p.Met1Val)	SNV Germline	Chr1:149927759	Pathogenic	Nager syndrome Condition: not provided	Criteria Provided Single Submitter	CA129872	rs_387907185	3 SubmittersRCV000024344 RCV002513226
NM_005850.5(SF3B4):c.913+1G>A	SNV Germline	Chr1:149925835	Pathogenic	Nager syndrome	No Assertion Criteria Provided	CA204936	rs_797045125	2 SubmittersRCV000024347
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)	SNV Germline	Chr1:149923922	Pathogenic	Nager syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144771	rs_397515324	3 SubmittersRCV000055627 RCV001211780
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)	SNV Unknown	Chr1:149926457	Pathogenic	Nager syndrome	No Assertion Criteria Provided	CA204943	rs_797045132	1 SubmittersRCV000190859
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)	SNV Unknown	Chr1:149926630	Pathogenic	Nager syndrome	No Assertion Criteria Provided	CA204945	rs_797045133	1 SubmittersRCV000190860
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)	SNV Germline	Chr1:149926889	Pathogenic	Nager syndrome	Criteria Provided Single Submitter	CA207666	rs_797045955	1 SubmittersRCV000193888
NM_005850.5(SF3B4):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:149927758	Pathogenic	Nager syndrome	Criteria Provided Single Submitter		rs_2101648820	1 SubmittersRCV001376052
NM_005850.5(SF3B4):c.35-1G>A	SNV Germline	Chr1:149927295	Pathogenic	Nager syndrome	Criteria Provided Single Submitter		rs_2101647799	1 SubmittersRCV001784964
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)	SNV Germline	Chr1:149926665	Pathogenic	Nager syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003128294