| | LOC130001767, LOC130001768 +1006 more | Copy number gain | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | CDKN2B, CDKN2B-AS1 +1214 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001680, LOC130001681 +1062 more | Copy number gain | See cases | |
| | LOC124210611, LOC124210612 +1120 more | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC130001484, LOC130001485 +883 more | Copy number gain | See cases | |
| | LOC130001854, LOC130001855 +1367 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +984 more | Copy number gain | See cases | |
| | LOC130001507, LOC130001508 +899 more | Copy number gain | See cases | |
| | LOC130001746, LOC130001747 +980 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | SPATA31F3, SPATA31G1 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Anauxetic dysplasia | |
| | ALDH1B1, ANKRD18A +219 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | NPR2, SPAG8 (Y462C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (V905L +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (T907M +1 more) | Single nucleotide variant (missense variant +1 more) | Short stature with nonspecific skeletal abnormalities +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | GConflicting classifications of pathogenicity |
| | SPAG8, NPR2 (I908T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | NPR2, SPAG8 (A911T +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (A911D +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (M913fs +1 more) | Duplication (frameshift variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (M916T +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (M913I +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (P919L +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R921* +1 more) | Single nucleotide variant (nonsense +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more | |
| | NPR2, SPAG8 (R921Q +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R925C +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (H929R +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (R932C +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 2 | |
| | NPR2, SPAG8 (A936V +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R945G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NPR2, SPAG8 (R945C +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (R947C +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (H948fs +1 more) | Duplication (frameshift variant +1 more) | Short stature with nonspecific skeletal abnormalities | |
| | NPR2, SPAG8 (R947H +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +2 more | |
| | NPR2, SPAG8 (R947P +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R952* +1 more) | Single nucleotide variant (nonsense +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (Q956R +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (R957C +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R957H +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | SPAG8, NPR2 (H961L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NPR2, SPAG8 (T962S +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (intron variant) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (G963E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (C966S +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (G971V +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (K976R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | NPR2, SPAG8 (P975T +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (D982N +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (R989* +1 more) | Single nucleotide variant (nonsense +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (R989Q +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (R989L +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +3 more | GPathogenic/Likely pathogenic |
| | NPR2, SPAG8 (M990R +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | NPR2, SPAG8 (G994S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NPR2, SPAG8 (Q995H +1 more) | Single nucleotide variant (missense variant +1 more) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | SPAG8, NPR2 (A999V +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (T1004I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | SPAG8, NPR2 (K1006T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | NPR2, SPAG8 (D1010G +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | NPR2, SPAG8 (Q1016H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NPR2, SPAG8 (R1020W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NPR2, SPAG8 (R1020Q +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 2 | |