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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(R169Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Large congenital melanocytic nevus
+8 more
GUncertain significance
HRAS, LRRC56
(L163fs +1 more)
Deletion
(frameshift variant +1 more)
Costello syndrome
GPathogenic/Likely pathogenic
HRAS, LRRC56
(E143Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
(Q129R +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GConflicting classifications of pathogenicity
HRAS, LRRC56
(V45D)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(G13D)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GPathogenic
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
HRAS, LRRC56
(G12D)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
LRRC56, HRAS
(G12V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+3 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
HRAS, LRRC56
(A11T)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+2 more
GUncertain significance
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
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