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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1
Deletion
(inframe_deletion +1 more)
Myopia
+7 more
GLikely pathogenic
KAT6B
(R438fs +7 more)
Deletion
(frameshift variant)
Blepharophimosis
+9 more
GLikely pathogenic
COL5A2
(G252C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
+5 more
GLikely pathogenic
Translocation
Telecanthus
+3 more
GUncertain significance
Translocation
Cerebral calcification
+12 more
GLikely pathogenic
Translocation
Abnormality of the outer ear
+10 more
GLikely pathogenic
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