Total 9 pathogenic variants reported for Hemophilia B

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NC_000023.11:g.139530716T>A	SNV Germline	ChrX:139530716	Pathogenic	Hemophilia B leyden	No Assertion Criteria Provided		rs_1178811105	1 SubmittersRCV000011304
NM_000133.4(F9):c.677G>A (p.Arg226Gln)	SNV Germline	ChrX:139551218	Pathogenic	Hemophilia b(m) Hereditary factor IX deficiency disease	Criteria Provided Single Submitter	CA121128	rs_137852241	2 SubmittersRCV000011337 RCV001727513
NM_000133.4(F9):c.682G>C (p.Val228Leu)	SNV Germline	ChrX:139551223	Pathogenic	Hemophilia b(m)	No Assertion Criteria Provided	CA121130	rs_137852243	1 SubmittersRCV000011340
NM_000133.4(F9):c.-22T>C	SNV Germline	ChrX:139530743	Pathogenic	Hemophilia B leyden	No Assertion Criteria Provided		rs_2148352869	1 SubmittersRCV000011390
NC_000023.11:g.139530731A>T	SNV Germline	ChrX:139530731	Pathogenic	Hemophilia B leyden	No Assertion Criteria Provided		rs_1927322453	1 SubmittersRCV000011391
NM_000133.4(F9):c.-17A>G	SNV Germline	ChrX:139530748	Likely pathogenic	Hemophilia B leyden Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease	Criteria Provided Single Submitter		rs_1927322926	2 SubmittersRCV000011392 RCV003764554
NC_000023.11:g.139530710G>C	SNV Germline	ChrX:139530710	Pathogenic	Hemophilia B Brandenburg	No Assertion Criteria Provided		rs_2148352851	1 SubmittersRCV000011399
NM_000133.3(F9):c.-35G>A	SNV Germline	ChrX:139530730	Pathogenic	Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hemophilia B leyden	Criteria Provided Single Submitter		rs_1166164399	2 SubmittersRCV000795083 RCV001815011