ClinVar for MedGen (Select 462497) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25851071.	NM_004820.5(CYP7B1):c.1109G>A (p.Arg370His) GRCh37: Chr8:65517363 GRCh38: Chr8:64604806	CYP7B1	R370H	Congenital bile acid synthesis defect 3	Uncertain significance	criteria provided, single submitter
Select item 9621512.	NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) GRCh37: Chr8:65509263 GRCh38: Chr8:64596706	CYP7B1	R486H	Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3, Spastic paraplegia, Congenital bile acid synthesis defect 3	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5981403.	NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys) GRCh37: Chr8:65711128 GRCh38: Chr8:64798571	CYP7B1, LOC130000507	S6C	not provided, Congenital bile acid synthesis defect 3	Uncertain significance (Aug 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 5955784.	NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) GRCh37: Chr8:65528748 GRCh38: Chr8:64616191	CYP7B1	K117T	not provided, Spastic paraplegia, Congenital bile acid synthesis defect 3	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4090265.	NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs) GRCh37: Chr8:65509433-65509434 GRCh38: Chr8:64596876-64596877	CYP7B1	K430fs	Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3, Spastic paraplegia	Pathogenic/Likely pathogenic (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2887056.	NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) GRCh37: Chr8:65528568 GRCh38: Chr8:64616011	CYP7B1	T177M	not provided, Congenital bile acid synthesis defect 3, Spastic paraplegia	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2821117.	NM_004820.5(CYP7B1):c.122+19A>T GRCh37: Chr8:65711004 GRCh38: Chr8:64798447	CYP7B1		Spastic paraplegia, Congenital bile acid synthesis defect 3, Hereditary spastic paraplegia 5A, not specified	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2199128.	NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) GRCh37: Chr8:65528764 GRCh38: Chr8:64616207	CYP7B1	R112*	not provided, Inborn genetic diseases, Hereditary spastic paraplegia, Spastic paraplegia	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 61079.	NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) GRCh37: Chr8:65509264 GRCh38: Chr8:64596707	CYP7B1	R486C	Congenital bile acid synthesis defect 3, Hereditary spastic paraplegia 5A, not provided, Hereditary spastic paraplegia, Hereditary spastic paraplegia 5A, CYP7B1-related condition, Spastic paraplegia	Pathogenic/Likely pathogenic (Aug 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 610010.	NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) GRCh37: Chr8:65517310 GRCh38: Chr8:64604753	CYP7B1	R388*	Spastic paraplegia, Hereditary spastic paraplegia 5A	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts