| | | Copy number gain | See cases | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (L296M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (W286G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (G278R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (P255R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (R252H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (R252C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (L236I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (S196L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862524, RSKR +1 more (D190E) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BLTP2, SPAG5-AS1 (C1472F +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | BLTP2, SPAG5-AS1 (I1427T +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | BLTP2, SPAG5-AS1 (V1393I +5 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | BLTP2, SPAG5-AS1 (V1867M +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLTP2, SPAG5-AS1 (L1985P +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BLTP2, SPAG5-AS1 (S1834N +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLTP2, SPAG5-AS1 (S1642C +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLTP2, SPAG5-AS1 (R1299Q +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLTP2, SPAG5-AS1 (N1965S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |