| | BHLHE22-AS1, BHLHE22 (S234T) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (S219G) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (A12T) | Single nucleotide variant (missense variant) | not specified | |
| | BHLHE22, BHLHE22-AS1 (G96S) | Single nucleotide variant (missense variant) | not specified | |
| | 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) | not specified | |
| | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |