| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (missense variant +2 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Deletion (inframe_deletion +2 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | FLRT1, MACROD1 (M29K +1 more) | Single nucleotide variant (missense variant +2 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | FLRT1, MACROD1 (C10W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (T24S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (R59H +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (G63S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (G71R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (A77T +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | FLRT1, MACROD1 (T84I +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (G97A +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (R127H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (R130Q +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (D136G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | FLRT1, MACROD1 (S146L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | FLRT1, MACROD1 (A148G +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (R149C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (H157Q +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (V166I +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (A172T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (D175N +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (L181R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MACROD1, FLRT1 (S194L +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (S223G +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (R226C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (R226H +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (D241V +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (R246C +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (S259L +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (T289M +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (R294L +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (R298Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | MACROD1, FLRT1 (N305K +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FLRT1-related disorder | |
| | FLRT1, MACROD1 (G284S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (D315N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FLRT1-related disorder | |
| | FLRT1, MACROD1 (R326K +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (D341H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (V343L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FLRT1, MACROD1 (A347V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (A348T +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (V321M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (M356L +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (V335F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (R364Q +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (S373R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (E374Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | FLRT1, MACROD1 (E374D +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (T381M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (T353R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (A390T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (T395M +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (S401Y +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |
| | FLRT1, MACROD1 (T376M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (F410Y +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (G418E +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy | |
| | FLRT1, MACROD1 (D395N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FLRT1, MACROD1 (I426T +1 more) | Single nucleotide variant (missense variant +1 more) | Peripheral neuropathy +1 more | |