| | AMACR, C1QTNF3-AMACR (F275S) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (E242K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (L77Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (F300S) | Single nucleotide variant (non-coding transcript variant +2 more) | AMACR-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMACR-related disorder | |
| | AMACR, C1QTNF3-AMACR (R97Q) | Single nucleotide variant (non-coding transcript variant +1 more) | AMACR-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | AMACR-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | AMACR-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMACR-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | AMACR-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | AMACR-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (A15T) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (V159A) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (D168N) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (Q170*) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (A189V) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (D191N) | Single nucleotide variant (synonymous variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (A328V) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | AMACR, C1QTNF3-AMACR (V304F) | Single nucleotide variant (non-coding transcript variant +2 more) | AMACR-related disorder | |
| | AMACR, C1QTNF3-AMACR (R173L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (T174A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (A235V) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (S130*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AMACR, C1QTNF3-AMACR (R361C) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (R51L) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (P146L) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency +2 more | |
| | AMACR, C1QTNF3-AMACR (I392V) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (R342T) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | AMACR, C1QTNF3-AMACR (I372V) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Insertion (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (F230Y) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency +1 more | |
| | AMACR, C1QTNF3-AMACR (G13R) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (S135G) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (S7T) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (I180V) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | C1QTNF3-AMACR, AMACR (H305Y) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (K268T) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (F169S) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (V132I) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Deletion (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (A189V) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (D273A) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (E148V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (S115G) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (R67L) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (P335S) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (R48L) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (D42N) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | C1QTNF3-AMACR, AMACR (N376Y) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (I286V) | Single nucleotide variant (missense variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (V54L) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (Q321E) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (A2T) | Single nucleotide variant (missense variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (I346V) | Single nucleotide variant (missense variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (M159T) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Deletion (intron variant) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (N333fs) | Insertion (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (P92fs) | Deletion (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (V142M) | Single nucleotide variant (non-coding transcript variant +2 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (S152N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (M85I) | Single nucleotide variant (non-coding transcript variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |
| | AMACR, C1QTNF3-AMACR (M166V) | Single nucleotide variant (missense variant +1 more) | Alpha-methylacyl-CoA racemase deficiency | |