| | BHLHE22, BHLHE22-AS1 (S276A) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (N186D) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G172R) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G13R) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G102A) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G97R) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (A34G) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | BHLHE22, BHLHE22-AS1 (Q343P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G224S) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (S227N) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G202C) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G222S) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (E66Q) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 +1 more (K128N) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 +1 more (G136R) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G109S) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G224A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (A345V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BHLHE22, BHLHE22-AS1 (S231G) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (P78R) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G225S) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G96D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (S228G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BHLHE22, BHLHE22-AS1 (S227G) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G13D) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (S231T) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (R3S) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (L321V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BHLHE22, BHLHE22-AS1 (P354S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G199D) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Polydactyly | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BHLHE22, BHLHE22-AS1 +12 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000438, LOC130000439 +421 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |