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Items: 1 to 100 of 230

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
LOC129995188, LOC129995189
+863 more
Copy number gain
See cases
GPathogenic
LOC129995377, LOC129995378
+676 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+622 more
Copy number gain
See cases
GPathogenic
ATP6V0E1, BNIP1
+81 more
Copy number loss
See cases
GPathogenic
ARL10, BOD1
+131 more
Copy number gain
See cases
GPathogenic
LOC126807608, LOC126807609
+16 more
Copy number loss
See cases
GPathogenic
LINC01951, LOC110121041
+2 more
Indel
Parietal foramina 1
GPathogenic
LOC110121041, MSX2
Copy number loss
See cases
GPathogenic
MSX2
Insertion
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Single nucleotide variant
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Deletion
not provided
GBenign
MSX2
Deletion
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Duplication
not provided
GBenign
MSX2
Deletion
not provided
GBenign
MSX2
Single nucleotide variant
not provided
GBenign
MSX2
Single nucleotide variant
(5 prime UTR variant)
Parietal foramina 1
+1 more
GBenign
MSX2
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis 2
+1 more
GUncertain significance
MSX2
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis 2
+1 more
GBenign/Likely benign
MSX2
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
MSX2
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
MSX2
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GUncertain significance
MSX2
(N8H)
Single nucleotide variant
(missense variant)
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
(E15K)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(G17S)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GBenign
MSX2
(G17V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(G25R)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
+1 more
GUncertain significance
MSX2
(P26L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(P28L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(E32V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
+1 more
GUncertain significance
MSX2
(A35P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSX2
(R39L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
+1 more
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GBenign
MSX2
(K41M)
Single nucleotide variant
(missense variant)
Parietal foramina 1
+1 more
GUncertain significance
MSX2
(S43P)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(S48T)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(A51V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(M53L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(D55H)
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
(K60Q)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(K60T)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(P66R)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(P66L)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Deletion
(inframe_deletion)
not provided
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(A72T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(P78S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
(G85fs)
Deletion
(frameshift variant)
Cranium bifidum occultum
GPathogenic
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(A89*)
Indel
(nonsense)
Parietal foramina 1
GPathogenic
MSX2
(V96L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MSX2
(A102P)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(A102T)
Single nucleotide variant
(missense variant)
Parietal foramina 1
+1 more
GUncertain significance
MSX2
(K105N)
Single nucleotide variant
(missense variant)
Craniosynostosis 2
+1 more
GBenign/Likely benign
MSX2
(S106L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSX2
(D111V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
(A113V)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Deletion
(nonsense)
Parietal foramina 1
GPathogenic
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(synonymous variant)
Cranium bifidum occultum
GLikely benign
MSX2
(R121G)
Single nucleotide variant
(missense variant)
Cranium bifidum occultum
GUncertain significance
MSX2
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
MSX2
(C129S)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
+1 more
GLikely benign
MSX2
(C129W)
Single nucleotide variant
(missense 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
(synonymous variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
(P131L)
Single nucleotide variant
(missense variant +1 more)
Cranium bifidum occultum
GLikely benign
MSX2
Single nucleotide variant
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSX2
Deletion
(intron variant)
not provided
GLikely benign
MSX2
Microsatellite
(intron variant)
not provided
GLikely benign
MSX2
Microsatellite
(intron variant)
not provided
GBenign
MSX2
Microsatellite
(intron variant)
not provided
GBenign
MSX2
Microsatellite
(intron variant)
not provided
GLikely benign
MSX2
Deletion
(intron variant)
not provided
GLikely benign
MSX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSX2
Deletion
not provided
GLikely benign
MSX2
Microsatellite
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MSX2
Microsatellite
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSX2
Single nucleotide variant
(intron variant)
not provided
GBenign
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GBenign
MSX2
Single nucleotide variant
(intron variant)
Cranium bifidum occultum
GLikely benign
MSX2
Microsatellite
(intron variant)
Cranium bifidum occultum
GLikely benign
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