"PreventionGenetics, part of Exact Sciences"[submitter] AND "AMACR"[ge - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1448041	NM_014324.6(AMACR):c.1082G>A (p.Arg361His)	AMACR, C1QTNF3-AMACR (R361H)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 501944	NM_014324.6(AMACR):c.1011C>T (p.Ile337=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3050787	NM_014324.6(AMACR):c.993G>A (p.Leu331=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition	GLikely benign
Select item 1967729	NM_014324.6(AMACR):c.984A>G (p.Ala328=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 1559017	NM_014324.6(AMACR):c.942G>A (p.Ser314=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 2632046	NM_014324.6(AMACR):c.910G>T (p.Val304Phe)	C1QTNF3-AMACR, AMACR (V304F)	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition	GUncertain significance
Select item 3055324	NM_014324.6(AMACR):c.899T>C (p.Phe300Ser)	AMACR, C1QTNF3-AMACR (F300S)	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition	GUncertain significance
Select item 1413911	NM_014324.6(AMACR):c.887C>T (p.Pro296Leu)	C1QTNF3-AMACR, AMACR (P296L)	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition +2 more	GUncertain significance
Select item 3047742	NM_014324.6(AMACR):c.876C>A (p.Ala292=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition	GLikely 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 597870	NM_014324.6(AMACR):c.714C>G (p.Pro238=)	AMACR, C1QTNF3-AMACR (P185A)	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 809742	NM_014324.6(AMACR):c.603G>A (p.Leu201=)	AMACR, C1QTNF3-AMACR (E148K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1589029	NM_014324.6(AMACR):c.459T>C (p.Phe153=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 595976	NM_014324.6(AMACR):c.429G>A (p.Pro143=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3051697	NM_014324.6(AMACR):c.290G>A (p.Arg97Gln)	AMACR, C1QTNF3-AMACR (R97Q)	Single nucleotide variant (non-coding transcript variant +1 more)	AMACR-related condition	GUncertain significance
Select item 3030711	NM_014324.6(AMACR):c.264C>A (p.Leu88=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	AMACR-related condition	GLikely benign
Select item 1626351	NM_014324.6(AMACR):c.248-4T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 559064	NM_014324.6(AMACR):c.204T>A (p.Arg68=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	AMACR-related condition +1 more	GLikely benign
Select item 5523	NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	AMACR, C1QTNF3-AMACR (S52P)	Single nucleotide variant (missense variant)	AMACR-related condition +3 more	GPathogenic/Likely pathogenic
Select item 501618	NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	AMACR, C1QTNF3-AMACR (P37T)	Single nucleotide variant (missense variant)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3047038	NM_014324.6(AMACR):c.108G>A (p.Arg36=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	AMACR-related condition	GLikely benign
Select item 903705	NM_014324.6(AMACR):c.100G>C (p.Val34Leu)	AMACR, C1QTNF3-AMACR (V34L)	Single nucleotide variant (missense variant)	AMACR-related condition +2 more	GUncertain significance
Select item 597136	NM_014324.6(AMACR):c.90T>G (p.Arg30=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	AMACR-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1556695	NM_014324.6(AMACR):c.33G>C (p.Leu11=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 3052419	NM_014324.6(AMACR):c.9G>T (p.Leu3=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	AMACR-related condition	GLikely benign
Select item 3036765	NM_014324.6(AMACR):c.-3G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (5 prime UTR variant)	AMACR-related condition	GLikely benign

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Items: 27