| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (S601fs +1 more) | Deletion (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | | Deletion (splice acceptor variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (F776fs +1 more) | Duplication (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (R1027fs +1 more) | Microsatellite (frameshift variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (Q1024P +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (S1098* +1 more) | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | | Microsatellite (frameshift variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | | Deletion | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (splice acceptor variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (splice donor variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (E759fs +1 more) | Microsatellite (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (Q813* +1 more) | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (E559* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | EIF2AK3, LOC101928371 (Y839C +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (I558fs +1 more) | Deletion (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | | Deletion (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (splice donor variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (V1034I +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (S570Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (R569K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (S849del +1 more) | Microsatellite (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (I996S +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (R547C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (L1018fs +1 more) | Duplication (frameshift variant) | Wolcott-Rallison dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (C904R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | EIF2AK3, LOC101928371 (S1096N +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (H677R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | | Deletion (frameshift variant) | Wolcott-Rallison dysplasia | |
| | | Deletion (frameshift variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (T1032S +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (splice acceptor variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | EIF2AK3, LOC101928371 (E621V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | EIF2AK3, LOC101928371 (M783R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (A828T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (N1074K +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | |
| | EIF2AK3, LOC101928371 (K672E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | EIF2AK3, LOC101928371 (R752* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia +1 more | |