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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(P174S +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(K170* +1 more)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R169Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Large congenital melanocytic nevus
+8 more
GUncertain significance
HRAS, LRRC56
(R169W +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+7 more
GUncertain significance
HRAS, LRRC56
(R164P +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+5 more
GUncertain significance
HRAS, LRRC56
(R161C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
HRAS, LRRC56
(T31P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
HRAS, LRRC56
(T13I)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(P4L)
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+8 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
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
(G12A)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+8 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(Y4C)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+6 more
GUncertain significance
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