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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TLE6
(E117K)
Single nucleotide variant
(missense variant +1 more)
Preimplantation embryonic lethality 1
GUncertain significance
TLE6
(G229R +1 more)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 1
GPathogenic
TLE6
(K146fs +1 more)
Deletion
(frameshift variant)
Preimplantation embryonic lethality 1
GLikely pathogenic
TLE6
(A255fs +1 more)
Deletion
(frameshift variant)
Preimplantation embryonic lethality 1
GPathogenic
TLE6
(S510Y +1 more)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 1
GPathogenic
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