| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123620117, LOC123620118 +324 more | Copy number loss | See cases | |
| | LOC132089385, LOC132089386 +221 more | Copy number loss | See cases | |
| | GTPBP2, LOC121132685 +27 more | Copy number gain | See cases | |
| | GTPBP2, POLR1C (M600T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GTPBP2, POLR1C (E595A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GTPBP2, POLR1C (T586S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (E488* +1 more) | Single nucleotide variant (nonsense +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (K483Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (R470H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GTPBP2, POLR1C (R470C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | POLR1C, GTPBP2 (R468H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | GTPBP2, POLR1C (H542R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GTPBP2, POLR1C (V537L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GTPBP2, POLR1C (A448S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (V444I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GTPBP2-related disorder +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (A516T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GTPBP2, POLR1C (E421fs +1 more) | Microsatellite (frameshift variant +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (E509A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GTPBP2, POLR1C (R396C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GTPBP2, POLR1C (F394L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GTPBP2, POLR1C (R470* +1 more) | Single nucleotide variant (nonsense +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (R379P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (Q407* +1 more) | Single nucleotide variant (nonsense +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | POLR1C, GTPBP2 (N309fs +1 more) | Insertion (frameshift variant +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (T396I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (E264fs +1 more) | Deletion (frameshift variant +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (R247W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GTPBP2, POLR1C (T324S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (I225M +1 more) | Single nucleotide variant (missense variant +1 more) | Jaberi-Elahi syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GTPBP2, POLR1C (V199L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (D193N +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (I127V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GTPBP2, POLR1C (A116D +1 more) | Single nucleotide variant (missense variant +1 more) | Jaberi-Elahi syndrome | |
| | GTPBP2, POLR1C (L109fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (S95A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GTPBP2, POLR1C (R174C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |