ClinVar for MedGen (Select 934591) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362352	NM_003500.4(ACOX2):c.749C>T (p.Thr250Ile)	ACOX2 (T250I)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GUncertain significance
Select item 3338234	NM_003500.4(ACOX2):c.373G>A (p.Ala125Thr)	ACOX2 (A125T)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GBenign
Select item 2438827	NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)	ACOX2 (R574C)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GUncertain significance
Select item 1687262	NM_003500.4(ACOX2):c.323+2T>C	ACOX2	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1618094	NM_003500.4(ACOX2):c.475+18C>T	ACOX2	Single nucleotide variant (intron variant)	Congenital bile acid synthesis defect 6 +1 more	GBenign/Likely benign
Select item 1301652	NM_003500.4(ACOX2):c.182C>T (p.Pro61Leu)	ACOX2 (P61L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1188892	NM_003500.4(ACOX2):c.-26T>C	ACOX2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1188891	NM_003500.4(ACOX2):c.161-57C>G	ACOX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1034006	NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)	ACOX2 (R127K)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GUncertain significance
Select item 710623	NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	ACOX2 (T154fs)	Microsatellite (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 562218	NM_003500.4(ACOX2):c.149G>A (p.Arg50His)	ACOX2 (R50H)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GUncertain significance
Select item 375691	NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	ACOX2 (R225W)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6 +1 more	GConflicting classifications of pathogenicity
Select item 375219	NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter)	ACOX2 (Y69*)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 6	GPathogenic