ClinVar for MedGen (Select 388039) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1413911	NM_014324.6(AMACR):c.887C>T (p.Pro296Leu)	AMACR, C1QTNF3-AMACR (P296L)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +2 more	GUncertain significance
Select item 596449	NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)	AMACR, C1QTNF3-AMACR (R61P)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 4 +2 more	GUncertain significance
Select item 502794	NM_014324.6(AMACR):c.783G>A (p.Met261Ile)	AMACR, C1QTNF3-AMACR (M261I)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital bile acid synthesis defect 4 +2 more	GUncertain significance
Select item 353245	NM_014324.6(AMACR):c.*617G>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 353244	NM_014324.6(AMACR):c.*663G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 235412	NM_014324.6(AMACR):c.782T>C (p.Met261Thr)	AMACR, C1QTNF3-AMACR (M261T)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital bile acid synthesis defect 4 +3 more	GBenign/Likely benign
Select item 210135	NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)	AMACR, C1QTNF3-AMACR (E282Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex I deficiency +4 more	GConflicting classifications of pathogenicity
Select item 128360	NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	AMACR, C1QTNF3-AMACR +1 more (E277K)	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign
Select item 128358	NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)	AMACR, C1QTNF3-AMACR (L201S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GBenign
Select item 128357	NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	AMACR, C1QTNF3-AMACR (G175D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 128356	NM_014324.6(AMACR):c.25G>A (p.Val9Met)	AMACR, C1QTNF3-AMACR (V9M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 5524	NM_014324.6(AMACR):c.320T>C (p.Leu107Pro)	AMACR, C1QTNF3-AMACR (L107P)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 4	GPathogenic
Select item 5523	NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	AMACR, C1QTNF3-AMACR (S52P)	Single nucleotide variant (missense variant)	AMACR-related disorder +3 more	GPathogenic/Likely pathogenic