| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | LOC130065082, LOC130065083 +806 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065034, LOC130065035 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (R553W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (P532L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (G530V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (Q527E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (G505V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065025, VSIG10L (A497V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065026, VSIG10L +1 more (T478S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130065026, VSIG10L +1 more (A449P) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (C428Y) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (T425I) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (A420T) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (V418L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | VSIG10L, VSIG10L-AS1 (V406L) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (Y397C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | VSIG10L, VSIG10L-AS1 (P383S) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (V380G) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (R375W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | VSIG10L, VSIG10L-AS1 (L363R) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (D361E) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (A351T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | VSIG10L, VSIG10L-AS1 (W327S) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (G316V) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (K309E) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | VSIG10L, VSIG10L-AS1 (G296V) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (R283Q) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (T278M) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (T205I) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (Q194K) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (S190R) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (S187P) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (M168R) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (D166V) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (P165L) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (S161A) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (T137N) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (S135C) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (P132S) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (P106L) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (D103E) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (V97I) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (S78T) | Single nucleotide variant (missense variant) | not provided | |
| | VSIG10L, VSIG10L-AS1 (S72P) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (Q46L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | VSIG10L, VSIG10L-AS1 (Q29E) | Single nucleotide variant (missense variant) | not specified | |
| | VSIG10L, VSIG10L-AS1 (D2E) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | PPP1R15A, PPP2R1A +308 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 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 | |