| | LOC130064390, LOC130064391 +2135 more | Copy number gain | See cases | |
| | LOC130063908, LOC130063909 +695 more | Copy number gain | See cases | |
| | LOC130064107, LOC130064108 +574 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Right atrial isomerism | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (3 prime UTR variant +1 more) | Visceral heterotaxy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive myoclonic epilepsy type 8 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CERS1, GDF1 +1 more (C336W) | Single nucleotide variant (3 prime UTR variant +1 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not specified | |
| | | Deletion (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Right atrial isomerism +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CERS1, GDF1 +1 more (C227*) | Single nucleotide variant (3 prime UTR variant +1 more) | Right atrial isomerism +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Indel (3 prime UTR variant +1 more) | GDF1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Right atrial isomerism +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Duplication (3 prime UTR variant +1 more) | Visceral heterotaxy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive myoclonic epilepsy type 8 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | Visceral heterotaxy +3 more | |
| | | Insertion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |