| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC105372493, LOC105372524 +579 more | Copy number gain | See cases | |
| | LOC126863004, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | LOC128706666, LOC130065416 +23 more | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | LOC128706665, LOC128706666 +1 more (H23R) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 6 +1 more | GConflicting classifications of pathogenicity |
| | LOC128706665, LOC128706666 +1 more (K9E) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (5 prime UTR variant) | McKusick-Kaufman syndrome +1 more | |
| | LOC128706666, MKKS +1 more | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Duplication (intron variant) | Bardet-Biedl syndrome +1 more | |
| | LOC128706665, LOC128706666 +1 more (G51*) | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more (S49R) | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more (P45T) | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more (I44M) | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more (H24R) | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (synonymous variant +2 more) | McKusick-Kaufman syndrome +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 6 +1 more | |
| | LOC128706665, LOC128706666 +1 more | Deletion (5 prime UTR variant +1 more) | McKusick-Kaufman syndrome +1 more | |
| | LOC128706665, LOC128706666 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | McKusick-Kaufman syndrome +1 more | |
| | LOC128706665, LOC128706666 +1 more | Duplication (5 prime UTR variant +1 more) | McKusick-Kaufman syndrome +1 more | |
| | LOC128706665, LOC128706666 +1 more | Duplication (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |