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Links from MedGen

Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSX2
(A72G)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(T151I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GBenign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(M129T)
Inversion
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Microsatellite
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(F242L)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(L205V)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant +1 more)
Cranium bifidum occultum
+1 more
GLikely benign
MSX2
(D111V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(S43P)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(Y255C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(P66R)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(M53L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(S218F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(R121G)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(K160R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
(A102P)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(A113V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(P131L)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(P241L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MSX2
Duplication
Cranium bifidum occultum
GUncertain significance
MSX2
(T151A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(E15K)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(P66L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(M215I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
MSX2
(R146H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(D55H)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
(S228L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(G85fs)
Deletion
(frameshift variant)
Cranium bifidum occultum
GPathogenic
MSX2
(M263I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(M215L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MSX2
(R39L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(N8S)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(G25R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MSX2
(G17V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GBenign
MSX2
(F224L)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GBenign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(A130T)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GBenign
MSX2
(G17S)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
+1 more
GBenign/Likely benign
MSX2
(C129S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
MSX2
(R143Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(P250L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(N8H)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GLikely benign
MSX2
(E32V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
+1 more
GUncertain significance
MSX2
(K60Q)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(Q153*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GPathogenic
MSX2
(A238T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis 2
+1 more
GUncertain significance
MSX2
(A51V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(P28L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(R162C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(S48T)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(T150S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(I169V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(P26L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(K60T)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(C129W)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(Q191R)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(I249V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(P251S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
+2 more
GUncertain significance
MSX2
(V96L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GBenign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(P148S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(A233V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Duplication
(3 prime UTR variant)
Cranium bifidum occultum
+1 more
GLikely benign
MSX2
Duplication
(3 prime UTR variant)
Cranium bifidum occultum
+1 more
GBenign
MSX2
Single nucleotide variant
(3 prime UTR variant +1 more)
MSX2-related condition
+3 more
GBenign
ALX4
Single nucleotide variant
Cranium bifidum occultum
GUncertain significance
ALX4
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
ALX4
Duplication
(3 prime UTR variant)
Cranium bifidum occultum
GLikely benign
ALX4
Microsatellite
(3 prime UTR variant)
Cranium bifidum occultum
GLikely benign
ALX4
Deletion
(3 prime UTR variant)
Cranium bifidum occultum
GUncertain significance
ALX4
Deletion
(3 prime UTR variant)
Cranium bifidum occultum
GUncertain significance
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