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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(P968fs)
Deletion
(frameshift variant)
Bilateral talipes equinovarus
+9 more
GLikely pathogenic
TTN
(H10132R +2 more)
Single nucleotide variant
(missense variant +1 more)
Restrictive ventilatory defect
+4 more
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GUncertain significance
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