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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
(S2G)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic
SHOC2
(S4R)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SHOC2
(E13A)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
SHOC2
(I119V)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+4 more
GConflicting classifications of pathogenicity
SHOC2
(R172W)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+3 more
GUncertain significance
SHOC2
(V207M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SHOC2
Single nucleotide variant
(intron variant)
RASopathy
GBenign
SHOC2
(L519V +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
+1 more
GUncertain significance
SHOC2
(S532G +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
SHOC2
(S508G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
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