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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Epidermolytic nevus
GUncertain significance
HRAS, LRRC56
Insertion
(5 prime UTR variant)
Vascular malformation
GLikely pathogenic
HRAS, LRRC56
(Q61K)
Single nucleotide variant
(missense variant +1 more)
Epidermal nevus
+2 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G13V)
Single nucleotide variant
(missense variant +1 more)
Large congenital melanocytic nevus
+2 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G13R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
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