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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant)
HRAS-related disorder
+2 more
GBenign/Likely benign
LRRC56, HRAS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GLikely benign
HRAS, LRRC56
(P174S +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(R169Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GUncertain significance
HRAS, LRRC56
(H166R +1 more)
Single nucleotide variant
(missense variant +1 more)
HRAS-related disorder
+1 more
GUncertain significance
HRAS, LRRC56
(R164Q +1 more)
Single nucleotide variant
(missense variant +1 more)
HRAS-related disorder
+2 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
LRRC56, HRAS
(D154V +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(A71T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +2 more)
HRAS-related disorder
GLikely benign
HRAS, LRRC56
(L163fs +1 more)
Deletion
(frameshift variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(R153C)
Single nucleotide variant
(synonymous variant +2 more)
HRAS-related disorder
GLikely benign
HRAS, LRRC56
(R149Q +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(R39W +1 more)
Single nucleotide variant
(missense variant)
HRAS-related disorder
GUncertain significance
HRAS, LRRC56
(G138S)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
HRAS, LRRC56
(A17V)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(T13I)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
HRAS-related disorder
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
RASopathy
GBenign
HRAS, LRRC56
Deletion
(intron variant)
HRAS-related disorder
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
HRAS, LRRC56
(N86T)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
HRAS-related disorder
+4 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
HRAS-related disorder
+3 more
GLikely benign
HRAS, LRRC56
Duplication
(inframe_insertion +1 more)
HRAS-related disorder
GLikely pathogenic
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
LRRC56, HRAS
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
HRAS, LRRC56
(G13D)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+10 more
GPathogenic
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
HRAS, LRRC56
(G12V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
HRAS, LRRC56
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
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