| | GATAD1, PEX1 (Y1200H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GATAD1, PEX1 (P1055L +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | GATAD1, LOC129998793 (P2L) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | GATAD1, LOC129998793 (T64S) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Duplication | Dilated cardiomyopathy 2B | |
| | GATAD1, PEX1 (M1056fs +2 more) | Deletion (frameshift variant) | Heimler syndrome 1 | |
| | GATAD1, PEX1 (L1022fs +2 more) | Duplication (frameshift variant) | Heimler syndrome 1 | |
| | GATAD1, PEX1 (Q1011fs +2 more) | Deletion (frameshift variant) | Heimler syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | GATAD1, LOC129998793 (G81D) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | GATAD1, LOC129998793 (G54D) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | GATAD1, PEX1 (T1073A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GATAD1, LOC129998793 (P7S) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | PEX1-related disorder | |
| | GATAD1, PEX1 (D1028A +2 more) | Indel (missense variant) | PEX1-related disorder | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | GATAD1, PEX1 (Y1077fs +2 more) | Duplication (frameshift variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Microsatellite (intron variant) | Zellweger spectrum disorders | |
| | | Deletion (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Duplication (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Microsatellite (inframe_insertion) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Deletion (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Deletion (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | GATAD1, PEX1 (Q873* +2 more) | Single nucleotide variant (nonsense) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | GATAD1, PEX1 (S1209fs +2 more) | Deletion (frameshift variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | GATAD1, LOC129998793 (G37S) | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (synonymous variant) | Zellweger spectrum disorders | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 2B | |