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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(G13R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+6 more
GPathogenic
HRAS, LRRC56
(G12D)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
KRAS
(G12V)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+5 more
GPathogenic
OOncogenic
KRAS
(G12D)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
OOncogenic
KRAS
(G13D)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GPathogenic
OOncogenic
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