| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | LOC126863293, LOC126863294 +478 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 | |
| | GLA, RPL36A-HNRNPH2 (L429fs) | Deletion (frameshift variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | RPL36A-HNRNPH2, GLA (M421V) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (N419D) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +3 more | |
| | GLA, RPL36A-HNRNPH2 (L414S) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +1 more | |
| | RPL36A-HNRNPH2, GLA (Y397fs) | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (L394P) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (Q386*) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | GLA, RPL36A-HNRNPH2 (T385A) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (V376E) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (G373D) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (A368P) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | RPL36A-HNRNPH2, GLA (A368T) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (Y365N) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | |
| | GLA, RPL36A-HNRNPH2 (R363C) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (P362L) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (G361R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | GLA, RPL36A-HNRNPH2 (E358del) | Deletion (inframe_deletion +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (R356Q) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (R356W) | Single nucleotide variant (missense variant +2 more) | GLA-related disorder +2 more | |
| | GLA, RPL36A-HNRNPH2 (A352G) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (W349*) | Single nucleotide variant (nonsense +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (G346fs) | Deletion (frameshift variant +2 more) | not provided | |
| | RPL36A-HNRNPH2, GLA (S345fs) | Microsatellite (frameshift variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (R342*) | Single nucleotide variant (nonsense +2 more) | GLA-related disorder +2 more | |
| | GLA, RPL36A-HNRNPH2 (W340*) | Insertion (nonsense +2 more) | Fabry disease +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (W340R) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | GLA, RPL36A-HNRNPH2 (R332E) | Indel (missense variant +2 more) | not specified +3 more | |
| | GLA, RPL36A-HNRNPH2 (L331F) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (P323T) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | GLA-related disorder +4 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (D313N) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (D313Y) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity; other |
| | GLA, RPL36A-HNRNPH2 (A309V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (R301Q) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +3 more | |
| | GLA, RPL36A-HNRNPH2 (R301*) | Single nucleotide variant (nonsense +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (M290I) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (M290L) | Single nucleotide variant (intron variant +2 more) | Fabry disease +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (I289V) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (Q283*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fabry disease +1 more | GConflicting classifications of pathogenicity |
| | 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 | |
| | GLA, RPL36A-HNRNPH2 (I242V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (S241G) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (K240fs) | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (S238N) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (W236*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (D234N) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | GLA, RPL36A-HNRNPH2 (I232S) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (R227*) | Single nucleotide variant (nonsense +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (N215S) | Single nucleotide variant (missense variant +2 more) | Hypertrophic cardiomyopathy +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Cardiomyopathy +3 more | |
| | | 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) | GLA-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Fabry disease +1 more | GConflicting classifications of pathogenicity |
| | RPL36A-HNRNPH2, GLA (M208fs) | Microsatellite (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (L206V) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, RPL36A-HNRNPH2 (P205A +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (W204*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (E203K) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (V199A) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |