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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(V396fs +2 more)
Microsatellite
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(W674* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(E205fs +2 more)
Microsatellite
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(Y601fs +2 more)
Duplication
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(V560F +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(G189R +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(Q859fs +2 more)
Duplication
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(N576S +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(I517T +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(L439fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(F735S +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(C221fs +2 more)
Microsatellite
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(F846fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(A641fs +2 more)
Duplication
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Copy number loss
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(Y163* +2 more)
Duplication
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(L230fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(R508C +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(D41Y +1 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
Indel
(intron variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(C745R +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(R206Q +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GUncertain significance
EFTUD2
(P358A +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(K344N +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(G310S +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(I135fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Deletion
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(I338V +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(K107fs +1 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(R534* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EFTUD2
(W698* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GPathogenic
EFTUD2
(R494C +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GUncertain significance
EFTUD2
(T643M +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Single nucleotide variant
(intron variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(Y687* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(M1I)
Single nucleotide variant
(missense variant +2 more)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(T630M +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(V515D +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Deletion
(splice acceptor variant)
not provided
+1 more
GPathogenic
EFTUD2
(L600H +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(E21D)
Single nucleotide variant
(missense variant +1 more)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(S614* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Deletion
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
EFTUD2
(R610W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EFTUD2
Deletion
(intron variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(E198G +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(E127fs +1 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(G409fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Deletion
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GConflicting classifications of pathogenicity
EFTUD2
(M440I +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(I618L +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(T112fs +1 more)
Duplication
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(Y241* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(A410fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Duplication
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(K63N +1 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(P832fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Deletion
(intron variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
Single nucleotide variant
(synonymous variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(K546fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(D260fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
EFTUD2
(L744F +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(R354* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
EFTUD2
(R813K +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GUncertain significance
EFTUD2
(Q488fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(A816fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(W733* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(V557fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(Y514* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EFTUD2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
EFTUD2
(R578* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GPathogenic
EFTUD2
(V900fs +2 more)
Microsatellite
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
+1 more
GPathogenic
EFTUD2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
EFTUD2
Deletion
(intron variant)
Mandibulofacial dysostosis-microcephaly syndrome
+2 more
GBenign/Likely benign
EFTUD2
Single nucleotide variant
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GLikely pathogenic
EFTUD2
(M433fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Single nucleotide variant
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(C256fs +2 more)
Duplication
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EFTUD2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
EFTUD2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EFTUD2
Deletion
(splice donor variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(H208R +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(Y832* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(L637R +2 more)
Single nucleotide variant
(missense variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(Y831* +2 more)
Single nucleotide variant
(nonsense)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(V552fs +2 more)
Deletion
(frameshift variant)
Mandibulofacial dysostosis-microcephaly syndrome
GPathogenic
EFTUD2
(Q924* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EFTUD2
(R262W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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