| | LOC129930966, LOC129930967 +548 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (genic downstream transcript variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glomuvenous malformation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (nonsense +1 more) | Blue rubber bleb nevus | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | Glomuvenous malformation | |
| | | Deletion (intron variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | GLMN-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Glomuvenous malformation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (synonymous variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | Glomuvenous malformation | |
| | | Indel (splice acceptor variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (splice acceptor variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | Glomuvenous malformation | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | |
| | | Microsatellite (splice acceptor variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | Glomuvenous malformation | |
| | | 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) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | Glomuvenous malformation +1 more | |
| | | Duplication (frameshift variant +1 more) | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Blue rubber bleb nevus +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Glomuvenous malformation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Indel (frameshift variant +1 more) | Glomuvenous malformation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Glomuvenous malformation | |
| | | Single nucleotide variant (splice donor variant) | Glomuvenous malformation | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glomuvenous malformation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |