"Genome-Nilou Lab"[submitter] AND "C1QTNF3-AMACR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 353245	NM_014324.6(AMACR):c.*617G>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital bile acid synthesis defect 4 +3 more	GBenign/Likely benign
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 +4 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 +3 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 +3 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 +3 more	GBenign

ClinVar