| | GLA, RPL36A-HNRNPH2 (G104D) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (R332fs) | Deletion (frameshift variant +2 more) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | | Single nucleotide variant (intron variant) | GLA-related condition | |
| | GLA, RPL36A-HNRNPH2 (H233Y) | Single nucleotide variant (missense variant +1 more) | RPL36A-HNRNPH2-related condition | |
| | | Copy number gain | not provided | |
| | | Deletion (intron variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Microsatellite (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (G411S +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (D244E +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Deletion (non-coding transcript variant +1 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (L189fs +1 more) | Deletion (frameshift variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (V380E +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E103K +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (T217I +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (L45V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (P421L +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Duplication (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (L129M +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A350G +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I132L +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A422V +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (R342fs +1 more) | Deletion (frameshift variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (Q229H) | Single nucleotide variant (intron variant +1 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E59V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Deletion (nonsense +1 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Duplication (inframe_insertion +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E178G +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (M70T +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (L324V +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A29P) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E251G +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (S102fs +1 more) | Deletion (frameshift variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A389D +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (G163fs +1 more) | Deletion (frameshift variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (W95C +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (F340L) | Single nucleotide variant (missense variant +1 more) | Fabry disease | |
| | | Indel (intron variant) | Fabry disease | |
| | | Deletion (intron variant) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Microsatellite (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant +1 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (C172R +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I270T +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A288D) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (M296L +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I344N +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I317fs) | Duplication (frameshift variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (P430R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E439A +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A307V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (V22I) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (intron variant) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (C378fs +1 more) | Duplication (frameshift variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (E398Q +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |