| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066385, LOC130066386 +553 more | Copy number gain | See cases | |
| | LOC130066289, LOC130066290 +491 more | Copy number gain | See cases | |
| | LOC130066383, LOC130066384 +464 more | Copy number gain | See cases | |
| | LOC130066362, LOC130066363 +355 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066313, LOC130066314 +183 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +248 more | Copy number loss | See cases | |
| | LOC130066412, LOC130066413 +244 more | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | RTEL1-TNFRSF6B, TNFRSF6B (A3S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (A3V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (E5K) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G6R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P7T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (L9V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TNFRSF6B, RTEL1-TNFRSF6B (S10L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (L11R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (L12V) | Single nucleotide variant (non-coding transcript variant +1 more) | TNFRSF6B-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (A17V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P19S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P19L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (L21P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (L22P) | Single nucleotide variant (non-coding transcript variant +1 more) | TNFRSF6B-related disorder | |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P23L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (V24M) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P25L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R28C) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R28H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G29R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (V30A) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P34L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TNFRSF6B, RTEL1-TNFRSF6B (R39W) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R39Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (A41T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | RTEL1-TNFRSF6B, TNFRSF6B (A41S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (E42D) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (E45fs) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G44R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G44A) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R46W) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TNFRSF6B, RTEL1-TNFRSF6B (R46L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (V48M) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (A50T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G55fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (C52Y) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P54S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (T56I) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1, RTEL1-TNFRSF6B +1 more (F57fs) | Deletion (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | RTEL1, RTEL1-TNFRSF6B +1 more (Q59*) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R60W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R60Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P61S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P61L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (C62fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (C62Y) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R63C) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R63H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R64*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (R64Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (D65H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (D65fs) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (S66G) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P67S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TNFRSF6B, RTEL1-TNFRSF6B (T69M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | RTEL1-TNFRSF6B, TNFRSF6B (G71D) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | RTEL1-TNFRSF6B, TNFRSF6B (P72L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |