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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(V630I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
BRCA2
(E1493fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRIP1
(A349P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
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