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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLYBL, DOCK9
+11 more
Deletion
Lobar holoprosencephaly
GPathogenic
DISP1
(E553K +1 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GUncertain significance
DISP1
(N363D +1 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GUncertain significance
FGFR1
(R250P +5 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GLikely pathogenic
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