| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058889, LOC130058890 +207 more | Copy number gain | See cases | |
| | CD2BP2-DT, TBC1D10B (R803Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (P788S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (D786G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (D786N) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (L781P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (S780L) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R777Q) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (K762E) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (E761D) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R742L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R742Q) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R742W) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (E739G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (E739K) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R735W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R728W) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R722Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R722W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (V683I) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (P682T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (P681S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (A673S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R648W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R647W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R646H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (R646C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (A608P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (N602S) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (V600M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (M591I) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (Q588R) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R584H) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (E578D) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (R561C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (S536L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, DCTPP1 +46 more | Copy number gain | See cases | |
| | CD2BP2-DT, TBC1D10B (R510Q) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (P503L) | Single nucleotide variant (missense variant) | not specified | |
| | CD2BP2-DT, TBC1D10B (A461V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CD2BP2-DT, TBC1D10B (A453V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058823, TBC1D10B (A81G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (G27D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (R26L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (R26W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (P24A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (A17P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (H15R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058824, TBC1D10B (P12S) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |