| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003758, LOC130003759 +309 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM170B, FAM170B-AS1 +306 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite (genic upstream transcript variant) | Multiple endocrine neoplasia type 2A | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Renal hypodysplasia/aplasia 1 +4 more | |
| | | Single nucleotide variant | Renal hypodysplasia/aplasia 1 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple endocrine neoplasia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple endocrine neoplasia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | RET-related disorder | |
| | LOC110121502, LOC130003705 +8 more | Duplication | Multiple endocrine neoplasia, type 2 | |
| | | Deletion (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC130003709, LOC130003710 +8 more | Duplication | Multiple endocrine neoplasia, type 2 | |
| | | Duplication (inframe_indel +2 more) | Multiple endocrine neoplasia, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Duplication (inframe_indel +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Duplication (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Duplication (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Duplication (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 | |
| | | Insertion (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 | |
| | | Deletion (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Indel (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Insertion (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 | |
| | | Microsatellite (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Microsatellite (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_indel +1 more) | Multiple endocrine neoplasia type 2A +8 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Microsatellite (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_indel +1 more) | Multiple endocrine neoplasia, type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |