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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP11
(H1631Y +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Odontochondrodysplasia 1
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Odontochondrodysplasia 1
+2 more
GBenign
TRIP11
(G1806V +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
GLikely pathogenic
TRIP11
Single nucleotide variant
(intron variant)
Odontochondrodysplasia 1
+2 more
GBenign
TRIP11
(R1575C +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
+2 more
GUncertain significance
TRIP11
(K541fs +1 more)
Deletion
(frameshift variant)
Odontochondrodysplasia 1
GPathogenic
TRIP11
(I710fs +1 more)
Deletion
(frameshift variant)
Odontochondrodysplasia 1
+1 more
GPathogenic
TRIP11
(M1806V +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
GLikely pathogenic
TRIP11
(E1605fs +1 more)
Microsatellite
(frameshift variant)
Odontochondrodysplasia 1
GPathogenic
TRIP11
(D410Y +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
GLikely pathogenic
TRIP11
(Q1512* +1 more)
Single nucleotide variant
(nonsense)
Odontochondrodysplasia 1
GLikely pathogenic
TRIP11
(K997fs +1 more)
Deletion
(frameshift variant)
Odontochondrodysplasia 1
GPathogenic
TRIP11
(Q196* +1 more)
Single nucleotide variant
(nonsense)
Odontochondrodysplasia 1
+1 more
GConflicting classifications of pathogenicity
TRIP11
Single nucleotide variant
(splice donor variant)
Odontochondrodysplasia 1
GPathogenic
TRIP11
(E680* +1 more)
Single nucleotide variant
(nonsense)
Odontochondrodysplasia 1
GPathogenic
TRIP11
(R1571H +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
+2 more
GUncertain significance
TRIP11
Single nucleotide variant
(5 prime UTR variant)
Achondrogenesis, type IA
+1 more
GUncertain significance
TRIP11
(D36V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
TRIP11
(E430G +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
+2 more
GUncertain significance
TRIP11
(E712K +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
TRIP11
(G1827S +1 more)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
+3 more
GBenign
TRIP11
(R264* +1 more)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IA
+1 more
GPathogenic
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