| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +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 | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Testosterone 17-beta-dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Testosterone 17-beta-dehydrogenase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | HSD17B3-related disorder | |
| | HSD17B3, SLC35D2-HSD17B3 (K308T) | Single nucleotide variant (missense variant) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (K308*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (G289S) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (W284*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (W284*) | 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) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (P282L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | 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) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (A275V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | 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 (synonymous variant) | Testosterone 17-beta-dehydrogenase deficiency +1 more | |
| | HSD17B3, SLC35D2-HSD17B3 (C268Y) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency | |
| | HSD17B3, SLC35D2-HSD17B3 (G267S) | 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) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (E254fs) | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (I244fs) | Deletion (frameshift variant) | not provided +1 more | |
| | HSD17B3, SLC35D2-HSD17B3 (K237E) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (M235V) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (S232L) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (T227A) | Single nucleotide variant (missense variant) | Disorder of sexual differentiation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (Q224H) | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | HSD17B3, SLC35D2-HSD17B3 (E215D) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | HSD17B3, SLC35D2-HSD17B3 (E214G) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous 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) | not provided | |
| | HSD17B3, SLC35D2-HSD17B3 (L212R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | 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) | not provided | |
| | SLC35D2-HSD17B3, HSD17B3 (A207T) | Single nucleotide variant (missense variant) | HSD17B3-related disorder +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |