| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LOC126805851, LIX1L-AS1 +1 more | Single nucleotide variant (synonymous variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Deletion (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Duplication (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LOC126805851, RBM8A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Deletion (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | ANKRD34A, ANKRD35 +47 more | Copy number loss | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (synonymous variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (missense variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (missense variant) | Radial aplasia-thrombocytopenia syndrome | |
| | ANKRD34A, ANKRD35 +10 more | Deletion | not provided | |
| | | Deletion | Radial aplasia-thrombocytopenia syndrome | |
| | | Copy number loss | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome +1 more | |
| | | Duplication | Radial aplasia-thrombocytopenia syndrome | |
| | | Deletion (splice donor variant) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (intron variant) | Radial aplasia-thrombocytopenia syndrome | |
| | RBM8A, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LOC126805851, RBM8A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Deletion (splice donor variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LOC126805851, RBM8A (I89V) | Single nucleotide variant (missense variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | Radial aplasia-thrombocytopenia syndrome | |
| | GPR89B, LOC129931326 +123 more | Deletion | Radial aplasia-thrombocytopenia syndrome | |
| | ANKRD34A, ANKRD35 +12 more | Copy number loss | Radial aplasia-thrombocytopenia syndrome | |
| | | Copy number loss | Radial aplasia-thrombocytopenia syndrome | |
| | | Deletion | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | RBM8A-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | Radial aplasia-thrombocytopenia syndrome | |
| | | Single nucleotide variant (nonsense) | Radial aplasia-thrombocytopenia syndrome | |
| | LOC126805851, RBM8A (V70fs) | Insertion (frameshift variant) | Radial aplasia-thrombocytopenia syndrome | |
| | LIX1L-AS1, LOC126805851 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Radial aplasia-thrombocytopenia syndrome +5 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | LOC126805851, RBM8A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | | Deletion | Radial aplasia-thrombocytopenia syndrome | |