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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GConflicting classifications of pathogenicity
CASP8
(M53I +1 more)
Single nucleotide variant
(missense variant +3 more)
Familial cancer of breast
+3 more
GUncertain significance
BRAF
(A712D +7 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+9 more
GConflicting classifications of pathogenicity
BRAF
(Y545H +7 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+7 more
GUncertain significance
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+12 more
GConflicting classifications of pathogenicity
KRAS
(Q22R)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
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