| | GLA, RPL36A-HNRNPH2 (T412fs) | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (W399S) | Single nucleotide variant (missense variant +2 more) | Fabry disease +4 more | |
| | GLA, RPL36A-HNRNPH2 (L394P) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (Y365N) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | |
| | GLA, RPL36A-HNRNPH2 (R363H) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (R363C) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (Q357fs) | Duplication (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (intron variant) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (V316A) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (R301Q) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | GLA, RPL36A-HNRNPH2 (M296I) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (M296V) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | RPL36A-HNRNPH2, GLA (W277G) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, RPL36A-HNRNPH2 (N272S) | Single nucleotide variant (missense variant +2 more) | Fabry disease | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (M267I) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | RPL36A-HNRNPH2, GLA (D244H) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I242V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (K240fs) | Deletion (frameshift variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (R227*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (C223Y) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (R220Q) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (R220*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (N215S) | Single nucleotide variant (missense variant +2 more) | Hypertrophic cardiomyopathy +4 more | |
| | | Single nucleotide variant (intron variant +1 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (intron variant) | GLA-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (L206F) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (G183D) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (D175E) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (C172Y) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (W162*) | Single nucleotide variant (nonsense +2 more) | Cardiomyopathy +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (K140T) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, HNRNPH2 +1 more (R112H) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | GLA, RPL36A-HNRNPH2 (E87K) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (G80D) | Single nucleotide variant (intron variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (T41S) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (P40S) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (D25N) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | RPL36A-HNRNPH2, GLA (A20D) | Single nucleotide variant (missense variant +2 more) | Fabry disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (G11V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (nonsense +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Fabry disease +1 more | |