| | | Copy number gain | See cases | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC130001533, LOC130001534 +1213 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 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 | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DAPK1-IT1, DCAF10 +1366 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001787, LOC130001788 +983 more | Copy number gain | See cases | |
| | LOC130001685, LOC130001686 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC126860590, LOC126860591 +897 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001651, LOC130001652 +585 more | Copy number gain | See cases | |
| | LOC130001669, LOC130001670 +690 more | Copy number gain | See cases | |
| | LOC130001706, LOC130001707 +435 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001670, LOC130001671 +360 more | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | LOC130001763, LOC730098 +211 more | Copy number loss | See cases | |
| | | Deletion | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | LOC129662434, LOC130001682 +138 more | Duplication | Anauxetic dysplasia | |
| | GALT, LOC130001682 +1 more | Deletion | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | GALT, LOC130001682 +1 more | Deletion | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | GALT, LOC130001682 +1 more | Deletion | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Deletion | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Duplication | not specified | |
| | | Deletion | not specified | |
| | | Deletion | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Microsatellite | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not specified | |
| | | Microsatellite | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Microsatellite | not specified +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more | |
| | | Deletion | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant) | Galactosemia | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Duplication (5 prime UTR variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion (frameshift variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion (frameshift variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (nonsense +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Indel (frameshift variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (nonsense +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Insertion (frameshift variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Indel (frameshift variant +1 more) | GALT-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Insertion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |