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Links from MedGen

Items: 1 to 100 of 589

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Deletion
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(S526N +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(D940N +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(E1478fs +1 more)
Deletion
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Deletion
(intron variant)
Achondrogenesis, type IA
GBenign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(E1335Q +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Microsatellite
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(N664D +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(Q1090* +1 more)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IA
GPathogenic
TRIP11
(N326K +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(M715T +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Insertion
(inframe_insertion)
Achondrogenesis, type IA
GPathogenic
TRIP11
(T970fs +1 more)
Duplication
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(M1534T +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(D1169fs +1 more)
Deletion
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(E1605G +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(S1839* +1 more)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IA
GPathogenic
TRIP11
(I314fs +1 more)
Microsatellite
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
(R542fs +1 more)
Duplication
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Deletion
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(P1850L +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Microsatellite
(inframe_insertion)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(P1920L +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(D461Y +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GBenign
TRIP11
(E1340K +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Deletion
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(T1057fs +1 more)
Deletion
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(K320E +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(E1744G +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(P1887L +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
+1 more
GUncertain significance
SLC24A4, TC2N
+42 more
Duplication
Achondrogenesis, type IA
GUncertain significance
TRIP11
(T292fs +1 more)
Duplication
(frameshift variant)
Achondrogenesis, type IA
GPathogenic
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(P1961L +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(R1804Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRIP11
(K737Q +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(K1055T +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(P1843A +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(L556F +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(K1607E +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(D1761A +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(A880T +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(Q1667R +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(S1317C +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(R1584H +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(L1640S +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(R1597H +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(I847V +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Deletion
(intron variant)
Achondrogenesis, type IA
GBenign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(S431L +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
Deletion
(inframe_deletion)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(A61E +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(E1275K +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(S990A +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
(I59V +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
TRIP11
Single nucleotide variant
(intron variant)
Achondrogenesis, type IA
GLikely benign
TRIP11
(E919K +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IA
GUncertain significance
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