| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC122787150, LOC122787151 +104 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Wolcott-Rallison dysplasia +1 more | |
| | | Microsatellite (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Microsatellite (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 (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Deletion (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 | |
| | | Microsatellite (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 (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (H1110Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (N1107fs +1 more) | Duplication (frameshift variant) | not provided | |
| | EIF2AK3, LOC101928371 (S1106F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (S1098* +1 more) | Single nucleotide variant (nonsense) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | EIF2AK3, LOC101928371 (S1096N +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (R1093H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (R942C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | EIF2AK3, LOC101928371 (S941F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (P1083A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (N1074K +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (N1070H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC101928371, EIF2AK3 (R1065Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | EIF2AK3, LOC101928371 (R1065* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | EIF2AK3, LOC101928371 (D905V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (V1054I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (M1053V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (V1052M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | EIF2AK3, LOC101928371 (Y1047* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (P1041T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (F1039L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2AK3, LOC101928371 (K1038N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (R1035I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (V1034I +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | EIF2AK3, LOC101928371 (D1033G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (T1032S +1 more) | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2AK3, LOC101928371 (T1030I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (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 | |
| | | 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 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |