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Links from MedGen

Items: 1 to 100 of 471

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPS1
Deletion
Trichorhinophalangeal dysplasia type I
+1 more
GLikely pathogenic
TRPS1
Deletion
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
AARD, CCN3
+14 more
Deletion
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
AARD, CCN3
+14 more
Duplication
Trichorhinophalangeal dysplasia type I
+2 more
GUncertain significance
TRPS1
(A258V +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
GUncertain significance
TRPS1
(K670fs +3 more)
Deletion
(frameshift variant)
Trichorhinophalangeal syndrome, type III
+1 more
GPathogenic
TRPS1
(T406I +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GUncertain significance
TRPS1
(P1135R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GUncertain significance
TRPS1
(V286L +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(R1007K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(V375F +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(L301I +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(N918I +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(C909R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(T905fs +3 more)
Duplication
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(D393G +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(E102K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(H715R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(A1159S +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(K10E +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(N19fs +3 more)
Duplication
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(R1112Q +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(E497fs +3 more)
Deletion
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(S648fs +3 more)
Deletion
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(Y923* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(N308S +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(Q827* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(N836S +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(T917I +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(S624* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(R259fs +3 more)
Deletion
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(S784fs +3 more)
Microsatellite
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(W397* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(E58G +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(L899F +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(Q530K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(W781* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(S911F +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(K132R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(S676G +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(Q646K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(M1229fs +3 more)
Duplication
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(S302F +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(intron variant)
Trichorhinophalangeal dysplasia type I
+1 more
GBenign
TRPS1
(G1278A +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(E1005K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(L566R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(Q725R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(K155N +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(P979L +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(R347H +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(S810R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(V1200L +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(Q1011H +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(A187V +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(N497fs +3 more)
Deletion
(frameshift variant)
Trichorhinophalangeal dysplasia type I
+1 more
GPathogenic
TRPS1
(E996G +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(S690R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(N1199Y +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
(N738S +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(S792R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(splice acceptor variant)
Trichorhinophalangeal syndrome, type III
+1 more
GLikely pathogenic
TRPS1
(Y563N +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GUncertain significance
TRPS1
(L211R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GUncertain significance
TRPS1
(T50M +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal syndrome, type III
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(D833N +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(A84T +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GBenign
TRPS1
(P191L +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(intron variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(S436R +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(G466S +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GUncertain significance
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(E166K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GBenign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
(E516K +3 more)
Single nucleotide variant
(missense variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
TRPS1
Single nucleotide variant
(synonymous variant)
Trichorhinophalangeal dysplasia type I
+1 more
GLikely benign
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