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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERF
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis 4
GUncertain significance
ERF
(P133L +1 more)
Single nucleotide variant
(missense variant)
TWIST1-related craniosynostosis
+2 more
GUncertain significance
ERF
Single nucleotide variant
(intron variant)
Craniosynostosis 4
+1 more
GUncertain significance
ERF
(Y238* +1 more)
Single nucleotide variant
(nonsense)
Craniosynostosis 4
+1 more
GLikely pathogenic
ERF
Single nucleotide variant
(intron variant +1 more)
Craniosynostosis 4
GPathogenic
ERF
(A100fs +1 more)
Duplication
(frameshift variant)
Craniosynostosis 4
GLikely pathogenic
ERF
(W14*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis 4
GLikely pathogenic
ERF
(R269G +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis 4
GUncertain significance
ERF
(L275fs +1 more)
Deletion
(frameshift variant)
Craniosynostosis 4
GLikely pathogenic
ERF
(K96* +1 more)
Single nucleotide variant
(nonsense)
Craniosynostosis 4
GLikely pathogenic
ERF
Deletion
(nonsense)
TWIST1-related craniosynostosis
+1 more
GPathogenic
ERF
(R83W +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis 4
+2 more
GConflicting classifications of pathogenicity
ERF
(K326fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder
+5 more
GPathogenic/Likely pathogenic
Translocation
Torticollis
+10 more
GUncertain significance
ERF
(M1V)
Single nucleotide variant
(missense variant +2 more)
Craniosynostosis 4
GPathogenic
ERF
Single nucleotide variant
(splice acceptor variant)
Craniosynostosis 4
GPathogenic
MYH7
(E1223K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
ERF
(Q424* +1 more)
Single nucleotide variant
(nonsense)
Craniosynostosis 4
GPathogenic
ERF
(R65Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ERF
(R86C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
ERF
(G299fs +1 more)
Deletion
(frameshift variant)
TWIST1-related craniosynostosis
+4 more
GPathogenic/Likely pathogenic
ERF
(R183* +1 more)
Single nucleotide variant
(nonsense)
Craniosynostosis 4
+2 more
GPathogenic
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