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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWIST1
(E117D)
Single nucleotide variant
(missense variant +1 more)
Sweeney-Cox syndrome
GPathogenic
TWIST1
(R120G)
Single nucleotide variant
(missense variant +1 more)
Sweeney-Cox syndrome
+2 more
GPathogenic/Likely pathogenic
TWIST1
Duplication
(inframe_insertion +1 more)
Sweeney-Cox syndrome
+4 more
GConflicting classifications of pathogenicity
TWIST1
Deletion
(inframe_deletion +1 more)
Sweeney-Cox syndrome
GBenign
TWIST1
(G51E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TWIST1
Duplication
(inframe_insertion +1 more)
TWIST1-related craniosynostosis
+3 more
GBenign/Likely benign
TWIST1
(E117G)
Single nucleotide variant
(missense variant +1 more)
Sweeney-Cox syndrome
GPathogenic
TWIST1
(E117V)
Single nucleotide variant
(missense variant +1 more)
Sweeney-Cox syndrome
GPathogenic
TWIST1
(G32S)
Single nucleotide variant
(missense variant +1 more)
TWIST1-related craniosynostosis
+5 more
GConflicting classifications of pathogenicity
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