U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AHCYL1
+332 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LOC129388571, LOC129388572
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+148 more
Copy number loss
See cases
GPathogenic
AMIGO1, AMPD2
+72 more
Copy number gain
See cases
GUncertain significance
GNAT2
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 4
GUncertain significance
GNAT2
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 4
GUncertain significance
GNAT2
(L353P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(L353F)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
(K345N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(I344T)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
(I342T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(K333I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(T324A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(M323V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAT2
(H322Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(I319fs)
Deletion
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(K317E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(D315N)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GUncertain significance
GNAT2
(R313Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(R313*)
Single nucleotide variant
(nonsense)
Achromatopsia 4
+1 more
GPathogenic
GNAT2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GNAT2
(N311S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(N311D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(L310F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
(L308V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(I303M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(Y302*)
Single nucleotide variant
(nonsense)
Abnormality of the eye
GLikely pathogenic
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
(A299E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(A299V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(D298del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
(Y296C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(Y296H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
(N293D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(G292D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAI3, GNAT2
+1 more
Single nucleotide variant
(splice donor variant)
Achromatopsia 4
GLikely pathogenic
GNAT2
(G292S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
(H282P)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
GUncertain significance
GNAT2
(H282fs)
Insertion
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(K280E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(I278M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(E276fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
Deletion
(nonsense)
not provided
GPathogenic
GNAT2
(F274S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(L273H)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
(D272V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(K271del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GNAT2
(K270fs)
Duplication
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(N269I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(L266P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(A261T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(A260V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(A260S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
(H248N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(E245K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(M243I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GNAT2
(M243T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(R242H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(R242C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2, LOC129388577
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2, LOC129388577
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAT2, LOC129388577
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
GNAT2, LOC129388577
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
GLikely pathogenic
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GNAT2, LOC129388577
(V240A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
(E239K)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2, LOC129388577
(L234P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
(L227V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2, LOC129388577
(G217E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2, LOC129388577
(R208T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
(E207V)
Single nucleotide variant
(missense variant)
Cone dystrophy
GPathogenic
LOC129388577, GNAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2, LOC129388577
(G202E)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GPathogenic
GNAT2
(M198K)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GUncertain significance
GNAT2
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
GLikely pathogenic
GNAT2
Single nucleotide variant
(splice acceptor variant)
Achromatopsia
GPathogenic
Format
Items per page
Sort by
Choose Destination