| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | BMP2K, LOC111832670 +330 more | Deletion | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS1, ADAMTS3 +331 more | Copy number gain | See cases | |
| | LOC129992714, LOC129992715 +236 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | SHROOM3-related disorder | |
| | | 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 | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SHROOM3-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (P134H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SHROOM3, SHROOM3-AS1 (H136Y) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (A140T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (L147H) | Single nucleotide variant (missense variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (R148W) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SHROOM3, SHROOM3-AS1 (G186R) | Single nucleotide variant (missense variant) | SHROOM3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (N204H) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (H207Y) | Single nucleotide variant (missense variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (R212Q) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (Q216R) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (P233T) | Single nucleotide variant (missense variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (G244S) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S250C) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R256K) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (H274Q) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3-AS1, SHROOM3 (G279A) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SHROOM3, SHROOM3-AS1 (M286V) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (E297A) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (M299I) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S325A) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | SHROOM3, SHROOM3-AS1 (R352W) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R352Q) | Single nucleotide variant (missense variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (G353D) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (V356A) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S367T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S367R) | Single nucleotide variant (missense variant) | SHROOM3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (Y392*) | Single nucleotide variant (nonsense) | not provided | |
| | SHROOM3, SHROOM3-AS1 (A393T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R396W) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R398C) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R398H) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S406N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (K410T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (K410N) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R414W) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (K449R) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (H450Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (P461T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (P469A) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | SHROOM3, SHROOM3-AS1 (V470L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (N488S) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (A507T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (M511T) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (E564A) | Single nucleotide variant (missense variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (S593G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (S620F) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (E627K) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (E645G) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (E645D) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (A661D) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (I668V) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (P669L) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R682Q) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (C695R) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (A696S) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (T699I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SHROOM3-related disorder | |
| | SHROOM3, SHROOM3-AS1 (H715N) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (R718Q) | Single nucleotide variant (missense variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (V720I) | Single nucleotide variant (missense variant) | not specified | |
| | SHROOM3, SHROOM3-AS1 (S737C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (P748R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SHROOM3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SHROOM3, SHROOM3-AS1 (S780L) | Single nucleotide variant (missense variant) | not specified | |