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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11
(Q402*)
Single nucleotide variant
(nonsense)
Hereditary factor XI deficiency disease
+2 more
GPathogenic/Likely pathogenic
COL4A2, COL4A2-AS1
(D1366N)
Single nucleotide variant
(missense variant)
Porencephaly 2
+3 more
GConflicting classifications of pathogenicity