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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWIST1
(Q109*)
Single nucleotide variant
(nonsense +1 more)
TWIST1-related craniosynostosis
+2 more
GPathogenic
LOC129998021, TWIST1
(S170fs)
Duplication
(frameshift variant +1 more)
Robinow-Sorauf syndrome
GPathogenic
TWIST1
Duplication
(inframe_insertion +1 more)
TWIST1-related craniosynostosis
+3 more
GBenign/Likely benign
TWIST1
(G32S)
Single nucleotide variant
(missense variant +1 more)
TWIST1-related craniosynostosis
+6 more
GConflicting classifications of pathogenicity
TWIST1
(Q71*)
Single nucleotide variant
(nonsense +1 more)
TWIST1-related craniosynostosis
+1 more
GPathogenic
LOC129998021, TWIST1
(R154fs)
Duplication
(frameshift variant +1 more)
Robinow-Sorauf syndrome
GPathogenic
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