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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH2
(P404L)
Single nucleotide variant
(missense variant)
Keratoacanthoma
GPathogenic
NOTCH2
(D415N)
Single nucleotide variant
(missense variant)
Keratoacanthoma
GPathogenic
NOTCH1
(Q1155*)
Single nucleotide variant
(nonsense)
Keratoacanthoma
GPathogenic
NOTCH1
(E758*)
Single nucleotide variant
(nonsense)
Keratoacanthoma
GPathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+2 more
GPathogenic
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