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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
PTPN11
(A72P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+12 more
GPathogenic/Likely pathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+11 more
GPathogenic
PTPN11
(A461S +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+3 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related disorder
+6 more
GPathogenic
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