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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL4, ADAMTSL4-AS2
(R556* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP26B1
(M318I +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GUncertain significance
CYP26B1
(V28fs)
Duplication
(frameshift variant)
Craniosynostosis syndrome
GUncertain significance
MSX1
(G273S)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+1 more
GUncertain significance
WDR19
(A747V +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 8
+5 more
GUncertain significance
RUNX2
(V100I +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GUncertain significance
IL11RA
(R115C)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTCH1
(A247V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TGFBR1
(E74D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
(T265I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TCF12
(T276fs +9 more)
Deletion
(frameshift variant)
Craniosynostosis syndrome
GLikely pathogenic
TCF12
Deletion
(nonsense)
Craniosynostosis syndrome
GLikely pathogenic
IGF1R
(K194fs)
Deletion
(frameshift variant)
Craniosynostosis syndrome
GUncertain significance
AXIN2
(S658C +1 more)
Single nucleotide variant
(missense variant)
Oligodontia-cancer predisposition syndrome
+2 more
GUncertain significance
ERF
(E359K +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GUncertain significance
ERF
(V128G +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+1 more
GUncertain significance
SPECC1L, SPECC1L-ADORA2A
(R540H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SPECC1L, SPECC1L-ADORA2A
(R639*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Craniosynostosis syndrome
GUncertain significance
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