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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(P179S +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+2 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+3 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
HRAS, LRRC56
(R169W +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+7 more
GUncertain significance
HRAS, LRRC56
(V160L +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(R41K)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
HRAS, LRRC56
(R39Q)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
(P38L)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
HRAS, LRRC56
(S36W +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(S36L)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
LRRC56, HRAS
(T35I)
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
(P140L +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(G138S)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
HRAS, LRRC56
(T31P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
HRAS, LRRC56
(L133H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
HRAS, LRRC56
(L133F)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(R23K)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
HRAS, LRRC56
(S127P)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(N20S)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(A17V)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(L15P)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
HRAS, LRRC56
(W14S)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
HRAS, LRRC56
(T13I)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(M111L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
HRAS, LRRC56
(P4L)
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+8 more
GBenign/Likely benign
HRAS, LRRC56
(S106W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HRAS, LRRC56
(K101I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(H94Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+4 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+2 more
GLikely benign
LRRC56, HRAS
(R68G)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
LRRC56, HRAS
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+5 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
HRAS, LRRC56
(V45D)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+8 more
GPathogenic
LRRC56, HRAS
(G12V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+3 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
HRAS, LRRC56
(A11T)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+2 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
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