| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | LAGE3-related condition | |
| | | Single nucleotide variant (synonymous variant) | LAGE3-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LAGE3, LOC130068876 (G11V) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAGE3, LOC130068876 (G44V) | Single nucleotide variant (missense variant) | not provided | |
| | LAGE3, LOC130068876 (H61Y) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAGE3, LOC130068876 (H21R) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | LAGE3, LOC130068876 (I62V) | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 2, X-linked | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LAGE3, LOC130068876 (A32V) | Single nucleotide variant (missense variant) | LAGE3-related condition | |
| | LAGE3, LOC130068876 (R57*) | Single nucleotide variant (nonsense) | LAGE3-related condition | |
| | LAGE3, LOC130068876 (A37T) | Single nucleotide variant (missense variant) | LAGE3-related condition | |
| | | Single nucleotide variant (missense variant) | LAGE3-related condition | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 2, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Galloway-Mowat syndrome 2, X-linked | |
| | | Single nucleotide variant (splice acceptor variant) | Galloway-Mowat syndrome 2, X-linked | |
| | ATP6AP1, DNASE1L1 +11 more | Copy number gain | Chromosome Xq28 duplication syndrome | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | Syndromic X-linked intellectual disability Lubs type | |
| | LAGE3, LOC130068876 (R47G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAGE3, LOC130068876 (T29A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAGE3, LOC130068876 (A40fs) | Duplication (frameshift variant) | not provided | |
| | ATP6AP1, DNASE1L1 +13 more | Duplication | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Deletion | Dyskeratosis congenita | |
| | ATP6AP1, DNASE1L1 +10 more | Duplication | not provided | |
| | | Duplication | Adrenoleukodystrophy | |
| | | Deletion | 3-Methylglutaconic aciduria type 2 +8 more | |
| | LAGE3, LOC130068876 (G46D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130068876, LAGE3 (A40E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | LAGE3-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LAGE3, LOC130068876 (H41P) | Single nucleotide variant (missense variant) | not provided | |
| | LAGE3, LOC130068876 (G10R) | Single nucleotide variant (missense variant) | LAGE3-related condition +1 more | GConflicting classifications of pathogenicity |
| | LAGE3, LOC130068876 (P43T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAGE3, LOC130068876 (G17D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LAGE3, LOC130068876 (R59W) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | LAGE3, LOC130068876 (S22fs) | Duplication (frameshift variant) | not provided | |
| | | Copy number gain | Septo-optic dysplasia sequence | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | Chromosome Xq28 duplication syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Immunodeficiency 33 +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | LAGE3-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | LAGE3-related condition +1 more | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 2, X-linked | |
| | LAGE3, LOC130068876 (G10E) | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 2, X-linked +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Intellectual disability | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | LAGE3, LOC130068876 (P60L) | Single nucleotide variant (missense variant) | LAGE3-related condition +1 more | |
| | LAGE3, LOC130068876 (D16N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |