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Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
CCIN, SPATA31F1
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
NPR2, SPAG8
(N481S)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
NPR2, SPAG8
(P473S)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
NPR2, SPAG8
(E471D)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
SPAG8, NPR2
(G468R)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
GBenign
NPR2, SPAG8
(Y462C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SPAG8, NPR2
Single nucleotide variant
(intron variant)
not provided
GBenign
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(splice acceptor variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely pathogenic
NPR2, SPAG8
(V905L +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
GUncertain significance
NPR2, SPAG8
(T907M +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature with nonspecific skeletal abnormalities
+3 more
GPathogenic/Likely pathogenic
NPR2, SPAG8
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
GUncertain significance
NPR2, SPAG8
(A911T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(A911D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(M913fs +1 more)
Duplication
(frameshift variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GPathogenic
NPR2, SPAG8
(M916T +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(M913I +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
(P919L +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(R921* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+2 more
GPathogenic
NPR2, SPAG8
(R921Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(R925C +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(H929R +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
(R932C +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 2
GLikely pathogenic
NPR2, SPAG8
(A936V +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(R945G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPR2, SPAG8
(R945C +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
(R947C +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(H948fs +1 more)
Duplication
(frameshift variant +1 more)
Short stature with nonspecific skeletal abnormalities
GPathogenic
NPR2, SPAG8
(R947H +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+2 more
GUncertain significance
NPR2, SPAG8
(R947P +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(R952* +1 more)
Single nucleotide variant
(nonsense +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2, SPAG8
(Q956R +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(R957C +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely pathogenic
NPR2, SPAG8
(R957H +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
GLikely pathogenic
SPAG8, NPR2
(H961L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPR2, SPAG8
(T962S +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(G963E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
(C966S +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GBenign
NPR2, SPAG8
(G971V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(K976R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NPR2, SPAG8
(P975T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+2 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2, SPAG8
(D982N +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
GPathogenic
NPR2, SPAG8
(R989* +1 more)
Single nucleotide variant
(nonsense +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2, SPAG8
(R989Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
GPathogenic
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
GUncertain significance
NPR2, SPAG8
(G994S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPR2, SPAG8
(Q995H +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
SPAG8, NPR2
(A999V +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
(T1004I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NPR2, SPAG8
Single nucleotide variant
(synonymous variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
SPAG8, NPR2
(K1006T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPR2, SPAG8
(D1010G +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
GUncertain significance
SPAG8, NPR2
Single nucleotide variant
(synonymous variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
(Q1016H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPR2, SPAG8
(R1020W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
NPR2, SPAG8
(R1020Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 2
GUncertain significance
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