ClinVar for MedGen (Select 1826069) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363589	NM_004820.5(CYP7B1):c.123-19dup	CYP7B1	Duplication (intron variant)	Spastic Paraplegia, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 363583	NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)	CYP7B1	Single nucleotide variant (synonymous variant)	Spastic Paraplegia, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 363579	NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)	CYP7B1 (C437Y)	Single nucleotide variant (missense variant +1 more)	Spastic Paraplegia, Recessive +2 more	GUncertain significance
Select item 363578	NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 358995	NM_005989.4(AKR1D1):c.*1372dup	AKR1D1	Duplication (3 prime UTR variant)	Congenital bile acid synthesis defect	GUncertain significance
Select item 281577	NM_004820.5(CYP7B1):c.260-15dup	CYP7B1	Duplication (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 5378	NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)	AKR1D1 (R261C +1 more)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2 +1 more	GPathogenic/Likely pathogenic
Select item 2885	NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)	HSD3B7 (G17fs)	Deletion (frameshift variant)	Congenital bile acid synthesis defect 1 +2 more	GPathogenic

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