A total 14 pathogenic variants reported in gene family with sequence similarity 149 member B1 (FAM149B1)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)	SNV Germline	Chr10:73193490	Pathogenic	Joubert syndrome 36	No Assertion Criteria Provided	CA377189454	rs_1259897171	1 SubmittersRCV000999700
NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)	SNV Germline	Chr10:73232994	Likely pathogenic	Joubert syndrome 36	Criteria Provided Single Submitter	CA209591110	rs_144804269	1 SubmittersRCV003233410
NM_173348.2(FAM149B1):c.1028G>C (p.Ser343Thr)	SNV Germline	Chr10:73230426	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5552900	rs_770670664	2 SubmittersRCV003417500 RCV005824523
NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)	SNV Germline	Chr10:73234866	Likely pathogenic	Joubert syndrome 36	Criteria Provided Single Submitter	CA209591414	rs_941024653	1 SubmittersRCV003990217
NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)	SNV Unknown	Chr10:73233009	Pathogenic	Joubert syndrome 36	Criteria Provided Single Submitter		rs_1233151424	1 SubmittersRCV004560473
NM_173348.2(FAM149B1):c.1127+1G>A	SNV Unknown	Chr10:73230526	Pathogenic	Joubert syndrome 36 Clear cell carcinoma of kidney	Criteria Provided Single Submitter		rs_750681131	2 SubmittersRCV004560508 RCV005939474
NM_173348.2(FAM149B1):c.499G>T (p.Ala167Ser)	SNV Germline	Chr10:73193550	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005828759 RCV006735013
NM_173348.2(FAM149B1):c.279T>A (p.Tyr93Ter)	SNV Germline	Chr10:73177972	Likely pathogenic	Joubert syndrome 36	Criteria Provided Single Submitter			1 SubmittersRCV005885366
NM_173348.2(FAM149B1):c.982C>T (p.Arg328Ter)	SNV Germline	Chr10:73228143	Likely pathogenic	Joubert syndrome 36	Criteria Provided Single Submitter			1 SubmittersRCV006696069