| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PNLIPRP2, PNLIPRP3 +14 more | Duplication | Microphthalmia, syndromic 11 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (missense variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | GFRA1-related disorder | |
| | | Single nucleotide variant (intron variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (missense variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (intron variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (missense variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (intron variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (intron variant) | GFRA1-related disorder | |
| | ABLIM1, ABRAXAS2 +117 more | Copy number gain | not provided | |
| | ABLIM1, ABRAXAS2 +145 more | Copy number gain | Distal trisomy 10q | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Distal trisomy 10q | |
| | ABRAXAS2, CHCHD1 +673 more | Copy number loss | Distal 10q deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 4 | |
| | | Single nucleotide variant (nonsense) | Renal hypodysplasia/aplasia 4 | |
| | | Deletion (frameshift variant +1 more) | Renal hypodysplasia/aplasia 4 | |
| | | Single nucleotide variant (nonsense) | Renal hypodysplasia/aplasia 4 | |
| | | Copy number loss | not specified | |
| | ABLIM1, ABRAXAS2 +146 more | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | GFRA1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | GFRA1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | ABLIM1, ABRAXAS2 +130 more | Copy number gain | not provided | |
| | ABLIM1, ABRAXAS2 +146 more | Copy number gain | not provided | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number gain | not provided | |
| | ABLIM1, ABRAXAS2 +157 more | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | ABLIM1, ABRAXAS2 +151 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +201 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 | |
| | | Copy number gain | See cases | |
| | LOC126861050, LOC126861051 +248 more | Copy number gain | See cases | |
| | LOC126861107, LOC128598885 +802 more | Copy number gain | See cases | |
| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ABLIM1, ABRAXAS2 +679 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004500, LOC130004501 +821 more | Copy number gain | See cases | |