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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRAS
(A130I)
Indel
(missense variant)
Cerebral arteriovenous malformation
+12 more
GUncertain significance
KRAS
(K180del)
Deletion
(3 prime UTR variant +1 more)
Toriello-Lacassie-Droste syndrome
GUncertain significance
KRAS
Single nucleotide variant
(intron variant)
Acute myeloid leukemia
+12 more
GConflicting classifications of pathogenicity
KRAS
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome
+13 more
GUncertain significance
KRAS
Single nucleotide variant
(intron variant)
not provided
+12 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(intron variant)
RASopathy
+13 more
GBenign/Likely benign
CLUAP1
(L273F +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GPathogenic
NLRP5
(L947P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NLRP5
(Q785*)
Single nucleotide variant
(nonsense)
Toriello-Lacassie-Droste syndrome
GUncertain significance
KRAS
(A130V)
Single nucleotide variant
(missense variant)
not provided
+15 more
GUncertain significance
KRAS
Single nucleotide variant
(intron variant)
Familial cancer of breast
+12 more
GLikely benign
KRAS
Single nucleotide variant
(intron variant)
Familial cancer of breast
+12 more
GLikely benign
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
KRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
KRAS
(Q22R)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
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