| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121587541, LOC121847976 +105 more | Copy number loss | Epilepsy syndrome | GPathogenic, low penetrance |
| | | Single nucleotide variant (synonymous variant) | CORO1A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CORO1A-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Deletion (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Duplication (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Deletion (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Deletion (splice donor variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | CORO1A, LOC121587541 (R241C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Infantile convulsions and choreoathetosis | |
| | CORO1A, LOC121587541 (R201H) | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CORO1A, LOC121587541 (V211I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Severe combined immunodeficiency due to CORO1A deficiency | |
| | CORO1A, LOC121587541 (R222W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CORO1A, LOC121587541 (V227L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (nonsense) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to CORO1A deficiency | |
| | CORO1A, LOC121587541 (D183E) | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CORO1A deficiency | |