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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
(L316V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAQ
(Q299H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAQ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAQ
(L288I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
Duplication
(intron variant)
GNAQ-related disorder
GLikely benign
GNAQ
Duplication
(intron variant)
not provided
GBenign
GNAQ
Duplication
(intron variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(intron variant)
GNAQ-related disorder
GLikely benign
GNAQ
Deletion
(intron variant)
GNAQ-related disorder
GLikely benign
GNAQ
Deletion
(intron variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNAQ
Single nucleotide variant
(splice donor variant)
Neoplasm
OUncertain significance
GNAQ
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
(Q209H)
Single nucleotide variant
(missense variant)
Familial multiple nevi flammei
+1 more
GPathogenic
GNAQ
(Q209H)
Single nucleotide variant
(missense variant)
Familial multiple nevi flammei
+1 more
GPathogenic
GNAQ
(Q209L)
Indel
(missense variant)
Uveal melanoma
GLikely pathogenic
GNAQ
(Q209P)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
GNAQ
(Q209R)
Single nucleotide variant
(missense variant)
Sturge-Weber syndrome
GPathogenic
GNAQ
(Q209L)
Single nucleotide variant
(missense variant)
Sturge-Weber syndrome
GPathogenic
GNAQ
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAQ
(R183P)
Single nucleotide variant
(missense variant)
GNAQ-related disorder
GUncertain significance
GNAQ
(R183L)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with capillary malformation
GPathogenic
GNAQ
(R183Q)
Single nucleotide variant
(missense variant)
Capillary malformation
+7 more
GPathogenic/Likely pathogenic
OOncogenic
GNAQ
(R183G)
Single nucleotide variant
(missense variant)
Familial multiple nevi flammei
GPathogenic
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
(Q152H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
(D130N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAQ
Copy number loss
See cases
GBenign
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GNAQ
(K77R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAQ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GNAQ
(G48V)
Single nucleotide variant
(missense variant)
Sturge-Weber syndrome
+1 more
GPathogenic/Likely pathogenic
GNAQ
Microsatellite
(intron variant)
not provided
GBenign
GNAQ
Microsatellite
(intron variant)
not provided
GBenign
GNAQ
Microsatellite
(intron variant)
not provided
GBenign
GNAQ
Microsatellite
(intron variant)
not provided
GBenign
GNAQ
Microsatellite
(intron variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAQ
(R31fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
GNAQ
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNAQ
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNAQ
Copy number loss
not specified
GUncertain significance
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