| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933708, LOC129933709 +104 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933706, FBXO11 +3 more | Deletion | Lynch syndrome | |
| | | Duplication | See cases | |
| | | Deletion | Lynch syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary cancer +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Lynch syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FBXO11, MSH6 (T839R +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (E836* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | FBXO11, MSH6 (P917S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | FBXO11, MSH6 (P833fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (A832V +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (S831fs +1 more) | Microsatellite (frameshift variant) | not provided | |
| | | Microsatellite (nonsense) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more | GPathogenic/Likely pathogenic |
| | FBXO11, MSH6 (T827fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (Y829fs +1 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (T827K +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (D826V +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (D826G +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | GPathogenic/Likely pathogenic |
| | FBXO11, MSH6 (D826Y +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (D826H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | FBXO11, MSH6 (D826N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | FBXO11, MSH6 (H907fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FBXO11, MSH6 (P821R +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | FBXO11, MSH6 (E820* +1 more) | Duplication (nonsense) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more | GPathogenic/Likely pathogenic |
| | FBXO11, MSH6 (A818fs +1 more) | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | FBXO11, MSH6 (L817F +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FBXO11, MSH6 (A818fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Deletion (inframe_deletion) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (T816R +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | FBXO11, MSH6 (P814S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more | |
| | FBXO11, MSH6 (A808V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | FBXO11, MSH6 (A808D +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (D805V +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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 (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 (intron variant) | not provided | |
| | FBXO11, MSH6 (R801G +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (E795fs +1 more) | Microsatellite (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (C868Y +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (V866E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | FBXO11, MSH6 (I780fs +1 more) | Microsatellite (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more | |
| | FBXO11, MSH6 (I780L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FBXO11, MSH6 (I780V +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO11, MSH6 (N773fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (N773del +1 more) | Deletion (inframe_deletion) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (T771S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FBXO11, MSH6 (T771A +1 more) | Single nucleotide variant (missense 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 (intron variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FBXO11, MSH6 (H764Y +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | FBXO11-related disorder | |
| | FBXO11, MSH6 (S757fs +1 more) | Deletion (frameshift variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | FBXO11, MSH6 (S840P +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | FBXO11, MSH6 (S747G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | FBXO11, MSH6 (I826T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |