| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (K426fs) | Deletion (frameshift variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (Q422L) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | GLA-related disorder +3 more | |
| | GLA, RPL36A-HNRNPH2 (W399S) | Single nucleotide variant (missense variant +2 more) | Fabry disease +4 more | |
| | GLA, RPL36A-HNRNPH2 (E398K) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, RPL36A-HNRNPH2 (G395A) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | GLA, RPL36A-HNRNPH2 (L394P) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | |
| | GLA, RPL36A-HNRNPH2 (T385A) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (N379H) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | RPL36A-HNRNPH2, GLA (A370V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A368P) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (A368T) | Single nucleotide variant (intron variant +2 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (Y365D) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | 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 (R356Q) | Single nucleotide variant (missense variant +2 more) | Fabry disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I354K) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (I354V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | RPL36A-HNRNPH2, GLA (A352G) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (P343L) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (V339A) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | GLA, RPL36A-HNRNPH2 (R332E) | Indel (missense variant +2 more) | Fabry disease +3 more | |
| | GLA, RPL36A-HNRNPH2 (L331F) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | |
| | GLA, RPL36A-HNRNPH2 (L324V +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (P323R) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (D313Y) | Single nucleotide variant (missense variant +2 more) | not provided +6 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (P305L) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (S304T) | Single nucleotide variant (missense variant +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 (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (M296V) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (M290L) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (I289V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +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 +1 more | |
| | | Single nucleotide variant (intron variant) | Fabry disease | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (R252T) | Single nucleotide variant (missense variant +2 more) | GLA-related disorder +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (I242V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | RPL36A-HNRNPH2, GLA (S241G) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (I239M) | Single nucleotide variant (missense variant +2 more) | Fabry disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (H225Y) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (R220Q) | Single nucleotide variant (missense variant +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) | Fabry disease +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fabry disease +1 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (M208I) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (missense variant +2 more) | GLA-related disorder +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (L206F) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | GLA, RPL36A-HNRNPH2 (S201A) | Single nucleotide variant (missense variant +2 more) | Cardiomyopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (L189W) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | RPL36A-HNRNPH2, GLA (D182N) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (S176G) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (D175E) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (D175E) | Single nucleotide variant (missense variant +2 more) | Fabry disease +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (F159L) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (F159V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A143S) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (A143T) | Single nucleotide variant (missense variant +2 more) | Fabry disease +5 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (N139S) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +1 more | |
| | GLA, RPL36A-HNRNPH2 (S126G) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (R118H) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | RPL36A-HNRNPH2, GLA (R118C) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | GLA, HNRNPH2 +1 more (R112H) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (Q107R) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (E87K) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (D83N) | Single nucleotide variant (missense variant +2 more) | Fabry disease +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (G80D) | Single nucleotide variant (intron variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (M70T +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (M70V) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (E66Q) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Fabry disease +2 more | |
| | | Single nucleotide variant (intron variant) | Fabry disease | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (D61N) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +1 more | |