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Items: 1 to 100 of 376

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(Y136F)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(V652M +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(N745K +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(R280Q)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(T390P)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(Y203H)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(G430E)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2, SPAG8
(A453T +2 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
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(F129V)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(V365L)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(N247S)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(M330I)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(D276N)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(H159Q)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
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
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(V651M +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+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
(M397T)
Single nucleotide variant
(missense variant)
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
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(F111V)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(splice donor variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely pathogenic
NPR2
(R268H)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(D679E +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(T121P)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(A682V +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(S526L +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(I595T +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(M368T)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(M397I)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
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
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
Single nucleotide variant
(intron variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(A317S)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(A488T +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(R581C +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(R828H +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(R278C)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
SPAG8, NPR2
(Q956R +1 more)
Single nucleotide variant
(missense variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(L456P)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(S434L)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GLikely benign
NPR2
(M808K +1 more)
Single nucleotide variant
(missense variant)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+1 more
GUncertain significance
NPR2
(V102A)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(R299Q)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(R723H +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(R601S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2
(T297M)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(Q282*)
Single nucleotide variant
(nonsense)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2
Single nucleotide variant
(synonymous variant)
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
+2 more
GBenign/Likely benign
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(P432S)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(L722V +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(D276H)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
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
(Y181C)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
APTX, AQP3
+87 more
Duplication
not provided
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2, SPAG8
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(W419*)
Single nucleotide variant
(nonsense)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2
Deletion
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(S130A)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(A585T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(R263C)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+2 more
GUncertain significance
NPR2, SPAG8
(P919L +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2, SPAG8
(R989* +1 more)
Single nucleotide variant
(nonsense +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GPathogenic
NPR2
(P99S)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(E359A)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(M232V)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(R371Q)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(R748Q +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GLikely benign
NPR2
(R165C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NPR2
(M490T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
NPR2
(Y254H)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 1, Maroteaux type
+1 more
GUncertain significance
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