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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNND1, TMX2-CTNND1
(P559S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
+1 more
GUncertain significance
CTNND1, TMX2-CTNND1
(P136fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
TMX2-CTNND1, CTNND1
(S115* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GLikely pathogenic
CTNND1, TMX2-CTNND1
(R243* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GLikely pathogenic
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GUncertain significance
CTNND1, TMX2-CTNND1
(E638* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GLikely pathogenic
TMX2-CTNND1, CTNND1
(N484fs +2 more)
Deletion
(frameshift variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
CTNND1, TMX2-CTNND1
(R295G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GUncertain significance
CTNND1, TMX2-CTNND1
(Q509* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GLikely pathogenic
CTNND1, TMX2-CTNND1
(R804* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GLikely pathogenic
CTNND1, TMX2-CTNND1
(P102fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
(Q365* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
(R700* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Blepharocheilodontic syndrome 2
GPathogenic
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