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Links from MedGen

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
(D49N)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+1 more
GUncertain significance
SHOC2
(V334I +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(R200C)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(V18L)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+3 more
GUncertain significance
SHOC2
(T469I +1 more)
Single nucleotide variant
(missense variant +1 more)
SHOC2-related condition
+1 more
GUncertain significance
SHOC2
(V245I)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
+1 more
GUncertain significance
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
(S508G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
SHOC2
(G53R)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GLikely pathogenic
SHOC2
(T279I)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(K169fs)
Indel
(frameshift variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(A78V)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
SHOC2
(N434T +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GConflicting classifications of pathogenicity
SHOC2
Indel
(missense variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic
SHOC2
(V207M)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+2 more
GUncertain significance
SHOC2
Deletion
(intron variant)
SHOC2-related condition
+5 more
GBenign/Likely benign
LOC130004755, SHOC2
Single nucleotide variant
(intron variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
LOC130004755, SHOC2
Single nucleotide variant
(non-coding transcript variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
LOC130004755, SHOC2
Single nucleotide variant
(intron variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(non-coding transcript variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(non-coding transcript variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(P19R)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
LOC130004755, SHOC2
Single nucleotide variant
(intron variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(S11Y)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+1 more
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
SHOC2
(M173V)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair
+4 more
GConflicting classifications of pathogenicity
SHOC2
(R172W)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
+2 more
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GLikely benign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Duplication
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Duplication
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GLikely benign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SHOC2
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GLikely benign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
GBenign
SHOC2
Deletion
(intron variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
SHOC2
Single nucleotide variant
(intron variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
Single nucleotide variant
(synonymous variant +2 more)
RASopathy
+1 more
GConflicting classifications of pathogenicity
SHOC2
Microsatellite
(intron variant)
not provided
+2 more
GBenign/Likely benign
SHOC2
(I234T)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
LOC130004755, SHOC2
Single nucleotide variant
(5 prime UTR variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GUncertain significance
SHOC2
(I204V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SHOC2
(Q413H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
SHOC2
(Q269R)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
+3 more
GConflicting classifications of pathogenicity
SHOC2
(M173I)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SHOC2
(I119V)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GConflicting classifications of pathogenicity
SHOC2
(E13A)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
SHOC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome and Noonan-related syndrome
+2 more
GBenign
SHOC2
Deletion
(intron variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GBenign/Likely benign
SHOC2
(S57F)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SHOC2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
SHOC2
(S532G +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
SHOC2
Single nucleotide variant
(intron variant)
RASopathy
GBenign
SHOC2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SHOC2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LOC130004755, SHOC2
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SHOC2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SHOC2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SHOC2
Single nucleotide variant
(intron variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GBenign
SHOC2
(E25G)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GConflicting classifications of pathogenicity
SHOC2
(S4R)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SHOC2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SHOC2
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GConflicting classifications of pathogenicity
SHOC2
(S2G)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic
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