| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089736, LOC132089737 +313 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Gorlin syndrome | |
| | | Copy number loss | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | LOC124310595, LOC124310596 +21 more | Deletion | Gorlin syndrome | |
| | LOC132089732, LOC132089733 +21 more | Deletion | Gorlin syndrome +1 more | |
| | LOC124310595, LOC124310596 +21 more | Duplication | Fanconi anemia | |
| | FANCC, LOC100507346 +17 more | Copy number loss | See cases | |
| | LOC130002130, LOC130002131 +5 more | Deletion | Gorlin syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Holoprosencephaly sequence +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Copy number loss | Gorlin syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Insertion (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Insertion (3 prime UTR variant +1 more) | Holoprosencephaly sequence +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Gorlin syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Holoprosencephaly 7 +1 more | |