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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
LRRC56, HRAS
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GBenign
HRAS, LRRC56
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
HRAS, LRRC56
(M182V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
(G101S +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HRAS, LRRC56
(P100L +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
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
(P174S +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(P173S +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
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
(R164Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+2 more
GUncertain significance
HRAS, LRRC56
(E162K +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(R161C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
LRRC56, HRAS
(F156L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
HRAS, LRRC56
(D154N +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(V152M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRC56, HRAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HRAS, LRRC56
(A71T)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
HRAS, LRRC56
(L163fs +1 more)
Deletion
(frameshift variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(R61Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
HRAS, LRRC56
(P167L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
HRAS, LRRC56
(P60R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
HRAS, LRRC56
(P54L)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRC56, HRAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
HRAS, LRRC56
(Q150*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
HRAS, LRRC56
(G43fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
LRRC56, HRAS
(R149W)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+2 more
GUncertain significance
HRAS, LRRC56
(E143Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
(S36L)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
HRAS, LRRC56
(G138S)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
HRAS, LRRC56
(R135G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HRAS, LRRC56
(L133H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
HRAS, LRRC56
(Q131*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
(A130V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRAS, LRRC56
(N20S)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(R123C)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
HRAS, LRRC56
(L15P)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
HRAS, LRRC56
(A121V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(T13I)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(K117R +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GPathogenic
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(R102W)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LRRC56, HRAS
(K101R)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
HRAS, LRRC56
(I93V)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
HRAS, LRRC56
(F90S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
HRAS, LRRC56
(K88*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
HRAS, LRRC56
(N86T)
Single nucleotide variant
(missense 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
(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
(R68W)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(E63K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
HRAS, LRRC56
(Q61R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GLikely pathogenic
HRAS, LRRC56
(Q61K)
Single nucleotide variant
(missense variant +1 more)
Epidermal nevus
+2 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G60V)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+6 more
GPathogenic
HRAS, LRRC56
(G60D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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)
not specified
+1 more
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HRAS, LRRC56
(I46T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(I46V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRC56, HRAS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
+1 more
GLikely benign
HRAS, LRRC56
(T35I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
+1 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
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