A total 11 pathogenic variants reported in gene B9 domain containing 2 (B9D2)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	SNV Germline	Chr19:41354927	Pathogenic	Meckel syndrome, type 10 Joubert syndrome and related disorders	Criteria Provided Single Submitter	CA406008844	rs_1487082103	2 SubmittersRCV000023919 RCV003330400
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)	SNV Germline	Chr19:41354765	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders Joubert syndrome 34	Criteria Provided Multiple Submitters No Conflicts	CA210341	rs_750436680	3 SubmittersRCV000201776 RCV001844085 RCV002265681
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	SNV Germline	Chr19:41355008	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders Joubert syndrome 34	Criteria Provided Multiple Submitters No Conflicts	CA279487	rs_863225150	3 SubmittersRCV000201694 RCV001844086 RCV002265683
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)	SNV Germline	Chr19:41358004	Pathogenic	Joubert syndrome Joubert syndrome 34	Criteria Provided Single Submitter	CA210285	rs_757863670	2 SubmittersRCV000201607 RCV002265682
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)	SNV Germline	Chr19:41355004	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Malignant tumor of urinary bladder B9D2-related disorder Ciliopathy	Criteria Provided Conflicting Classifications	CA9460301	rs_148087680	4 SubmittersRCV002735439 RCV005928415 RCV003963339 RCV005356188
NM_030578.4(B9D2):c.15C>A (p.His5Gln)	SNV Germline	Chr19:41363505	Likely pathogenic	Meckel syndrome, type 10	Criteria Provided Single Submitter	CA406012139	rs_1388769907	2 SubmittersRCV000993853
NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter)	SNV Unknown	Chr19:41357943	Likely pathogenic	Meckel syndrome, type 10	Criteria Provided Single Submitter	CA406010419	rs_1568484575	1 SubmittersRCV001002781
NM_030578.4(B9D2):c.127C>T (p.Gln43Ter)	SNV Germline	Chr19:41357984	Likely pathogenic	Meckel syndrome, type 10	Criteria Provided Single Submitter			1 SubmittersRCV006257941