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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH9
(D1424G)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+10 more
GLikely pathogenic
CYFIP1, NIPA1
+2 more
Copy number loss
Obesity
+9 more
GPathogenic
Translocation
Hypernasal speech
+9 more
GUncertain significance
ACVRL1
(R484Q)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+5 more
GPathogenic
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