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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Odonto-onycho-dermal dysplasia
GPathogenic
RANBP3-DT, RFX2
(I449T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDARADD
(N128I +2 more)
Single nucleotide variant
(missense variant)
Tooth agenesis
GLikely pathogenic
ANKRD30B
(D646fs)
Deletion
(frameshift variant +1 more)
Tooth agenesis
GUncertain significance
VPS54
(M155I +1 more)
Single nucleotide variant
(missense variant)
Tooth agenesis
GUncertain significance
AAK1
(S864Y)
Single nucleotide variant
(missense variant +1 more)
Tooth agenesis
GUncertain significance
SEH1L
(V184I)
Single nucleotide variant
(missense variant)
Tooth agenesis
GUncertain significance
SLC25A21, PAX9
Deletion
Tooth agenesis
+1 more
GUncertain significance
BMP4
(V205A +2 more)
Single nucleotide variant
(missense variant)
Low bone mineral density
+1 more
GUncertain significance
BMP4
(G20S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tooth agenesis
GUncertain significance
WNT10A
(N363H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
WNT10A
(G165R)
Single nucleotide variant
(missense variant)
Odonto-onycho-dermal dysplasia
+3 more
GConflicting classifications of pathogenicity
LRP6
(S1433L)
Single nucleotide variant
(missense variant)
Orofacial cleft
+1 more
GUncertain significance
LRP6
(G1379D)
Single nucleotide variant
(missense variant)
Orofacial cleft
+1 more
GUncertain significance
LRP6
Single nucleotide variant
(splice acceptor variant)
Tooth agenesis
GLikely pathogenic
LRP6
Single nucleotide variant
(splice donor variant)
Tooth agenesis
GLikely pathogenic
LRP6
(G537R)
Single nucleotide variant
(missense variant)
Tooth agenesis
GLikely pathogenic
LRP6
(P469L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP6
(R173G)
Single nucleotide variant
(missense variant)
Tooth agenesis
GLikely pathogenic
LRP6
Single nucleotide variant
(splice acceptor variant)
Tooth agenesis
GPathogenic
LRP6
(C1532fs)
Deletion
(frameshift variant)
Orofacial cleft
+1 more
GPathogenic
WNT10A
(G213S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
WNT10A
(F228I)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 4
+9 more
GConflicting classifications of pathogenicity
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