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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(R32033fs +5 more)
Duplication
(frameshift variant)
not provided
+8 more
GPathogenic/Likely pathogenic
Translocation
Microcephaly
+7 more
GUncertain significance
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Translocation
Delayed speech and language development
+9 more
GPathogenic
Translocation
Corpus callosum, agenesis of
+24 more
GUncertain significance
Inversion
Motor delay
+8 more
GPathogenic
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