| | LOC102723692, LOC111365165 +77 more | Copy number loss | Autism spectrum disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Duplication (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R662L) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (D636N) | Single nucleotide variant (missense variant) | not provided | |
| | LOC102723692, XYLT1 (R662W) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC102723692, XYLT1 (E664D) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC102723692, XYLT1 (A663T) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Duplication (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC102723692, XYLT1 (R657C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (T534M) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R551H) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (G618R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R628H) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (H541Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R598H) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (L651W) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (Y614C) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Deletion (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R557C) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 +1 more | |
| | LOC102723692, XYLT1 (I609T) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC102723692, XYLT1 (D543N) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (Q588R) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R662Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC102723692, XYLT1 (L644M) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | XYLT1, LOC102723692 (V603M) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (G573S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC102723692, XYLT1 (M545V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | LOC102723692, XYLT1 (R551C) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 2 +1 more | |
| | LOC102723692, XYLT1 (T665M) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 2 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | XYLT1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (S530A) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | XYLT1, LOC102723692 (D646N) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (V647M) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R657H) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC102723692, XYLT1 (N577S) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (D583N) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | XYLT1, LOC102723692 (S539G) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | XYLT1-related disorder +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC102723692, XYLT1 (G640S) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Duplication (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | XYLT1-related disorder +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (P581L) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (E664K) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (R661Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 | |
| | LOC102723692, XYLT1 (N605Y) | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 +1 more | |
| | XYLT1, LOC102723692 (R586C) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 2 +2 more | |
| | MPV17L-BMERB1, NPIPA7 +66 more | Duplication | Schizophrenia | |
| | LOC125146419, LOC126862299 +83 more | Duplication | Schizophrenia | |
| | LOC102723692, LOC126862302 +15 more | Deletion | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112340379, LOC112340380 +66 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | LOC126862302, LOC126862303 +95 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |