"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AMACR"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1470318	NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg)	AMACR, C1QTNF3-AMACR (Q366R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 905565	NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile)	AMACR, C1QTNF3-AMACR (T334I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2682883	NM_014324.6(AMACR):c.983C>T (p.Ala328Val)	AMACR, C1QTNF3-AMACR (A328V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1163257	NM_014324.6(AMACR):c.950C>A (p.Thr317Asn)	AMACR, C1QTNF3-AMACR (T317N)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 382384	NM_014324.6(AMACR):c.837G>A (p.Thr279=)	C1QTNF3-AMACR, AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 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 235412	NM_014324.6(AMACR):c.782T>C (p.Met261Thr)	AMACR, C1QTNF3-AMACR (M261T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 596793	NM_014324.6(AMACR):c.770A>G (p.Asn257Ser)	AMACR, C1QTNF3-AMACR (N257S)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 128359	NM_014324.6(AMACR):c.717G>T (p.Gln239His)	AMACR, C1QTNF3-AMACR (Q239H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1358927	NM_014324.6(AMACR):c.713C>T (p.Pro238Leu)	AMACR, C1QTNF3-AMACR (P238L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 353254	NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)	AMACR, C1QTNF3-AMACR (P238S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +2 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 597405	NM_014324.6(AMACR):c.566C>A (p.Ala189Glu)	AMACR, C1QTNF3-AMACR (A189E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1693894	NM_014324.6(AMACR):c.563C>T (p.Thr188Ile)	AMACR, C1QTNF3-AMACR (T188I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 235439	NM_014324.6(AMACR):c.554T>C (p.Val185Ala)	AMACR, C1QTNF3-AMACR (V185A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 377239	NM_014324.6(AMACR):c.445C>A (p.Leu149Ile)	AMACR, C1QTNF3-AMACR (L149I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1357314	NM_014324.6(AMACR):c.289C>T (p.Arg97Trp)	AMACR, C1QTNF3-AMACR (R97W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 381406	NM_014324.6(AMACR):c.247+20G>A	C1QTNF3-AMACR, AMACR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 559064	NM_014324.6(AMACR):c.204T>A (p.Arg68=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 596449	NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)	AMACR, C1QTNF3-AMACR (R61P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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
Select item 384898	NM_014324.6(AMACR):c.-22C>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (5 prime UTR variant)	Alpha-methylacyl-CoA racemase deficiency +2 more	GConflicting classifications of pathogenicity

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Items: 23