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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EWSR1
Single nucleotide variant
(intron variant)
Ewing sarcoma
+1 more
GBenign
ERG, EWSR1
Translocation
Neurofibromatosis, type 1
+1 more
GPathogenic
NF1
(K2375* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
BAP1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
NF1
(Y2264* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
CDK4, TSPAN31
(S259L)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+5 more
GConflicting classifications of pathogenicity
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