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Links from MedGen

Items: 1 to 100 of 533

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(G138R)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(P42A +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R37K)
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(V125G +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(T74S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(Q99*)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(D132G +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Deletion
(splice donor variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(A66V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(M67I)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(L53*)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(E31Q)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R102Q)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(Q165K +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(N93K +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(D154Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(V125fs +1 more)
Deletion
(frameshift variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(E153* +1 more)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(L53W)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(Q43H)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R41Q)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(E49G)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
LRRC56, HRAS
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(V44A)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(I142del +1 more)
Deletion
(inframe_deletion)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(W8*)
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(G99S +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S136T +1 more)
Single nucleotide variant
(missense variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(G101R +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(L92V +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(T20I)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Duplication
not provided
GUncertain significance
HRAS, LRRC56
(E126* +1 more)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(I163M +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(L19M)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(T74A)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(I142F)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(G77D)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(V9fs)
Duplication
(frameshift variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(G60R)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(P40L)
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(R135*)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S98fs +1 more)
Microsatellite
(frameshift variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(G151R +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(P4Q)
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(T158R +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S65N)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(R73H)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(G15V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(C51R)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(L159F +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S11N)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(D107N)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(D105H)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(E162D +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
LRRC56, HRAS
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(G151R +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
LRRC56, HRAS
(S110del +1 more)
Deletion
(inframe_deletion +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(A83T)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
(M72T)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(E98*)
Duplication
(nonsense +3 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R149Q +1 more)
Single nucleotide variant
(missense variant)
HRAS-related condition
+1 more
GUncertain significance
HRAS, LRRC56
(S136fs +1 more)
Insertion
(frameshift variant)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(Y64*)
Duplication
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(intron variant)
Costello syndrome
GLikely benign
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
Deletion
(inframe_deletion +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
Single nucleotide variant
(synonymous variant +1 more)
Costello syndrome
GLikely benign
HRAS, LRRC56
(K88E)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S98del +1 more)
Deletion
(inframe_deletion +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(S136G)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(P173R +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GLikely benign
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