| | LOC129996876, LOC129996877 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Arterial calcification, generalized, of infancy, 1 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Arterial calcification, generalized, of infancy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Arterial calcification, generalized, of infancy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Arterial calcification, generalized, of infancy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypophosphatemic rickets, autosomal recessive, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, autosomal recessive, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, autosomal recessive, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Arterial calcification, generalized, of infancy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | Hypophosphatemic rickets, autosomal recessive, 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Arterial calcification, generalized, of infancy, 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, autosomal recessive, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | Arterial calcification, generalized, of infancy, 1 +5 more | |
| | | Insertion (intron variant) | not provided +5 more | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Insertion (intron variant) | Hypophosphatemic Rickets, Recessive +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Hypophosphatemic Rickets, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Hypophosphatemic Rickets, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Hypophosphatemic Rickets, Recessive +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Hypophosphatemic Rickets, Recessive +2 more | |
| | | Deletion (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hypophosphatemic rickets, autosomal recessive, 2 +2 more | |
| | | Microsatellite (intron variant) | Hypophosphatemic Rickets, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Arterial calcification, generalized, of infancy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Hypophosphatemic Rickets, Recessive +2 more | |
| | | Single nucleotide variant (intron variant) | Hypophosphatemic rickets, autosomal recessive, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | Hypophosphatemic rickets, autosomal recessive, 2 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |