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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAI3, GNAT2
+1 more
Single nucleotide variant
(splice donor variant)
Achromatopsia 4
GLikely pathogenic
GNAT2
(P169H)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GUncertain significance
GNAT2
(D94A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNAT2
(I344T)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
(L353F)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
(L273H)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GUncertain significance
GNAT2
Single nucleotide variant
(intron variant)
Achromatopsia 4
GUncertain significance
GNAT2, LOC129388577
(E239K)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
GUncertain significance
GNAT2
(H282P)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
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
Single nucleotide variant
(5 prime UTR variant +1 more)
Achromatopsia 4
GLikely benign
GNAT2
Single nucleotide variant
(synonymous variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2
(I81M)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
GUncertain significance
GNAT2
Single nucleotide variant
(synonymous variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2
Single nucleotide variant
(intron variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2, LOC129388577
(G202E)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GPathogenic
GNAT2
(I319fs)
Deletion
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(D315N)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GUncertain significance
GNAT2
(R313*)
Single nucleotide variant
(nonsense)
Achromatopsia 4
+1 more
GPathogenic
GNAT2
(Y296H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
(K271del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GNAT2
(K270fs)
Duplication
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(R242C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNAT2, LOC129388577
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
GLikely pathogenic
GNAT2, LOC129388577
(R208T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2, LOC129388577
(E207V)
Single nucleotide variant
(missense variant)
Cone dystrophy
GPathogenic
GNAT2
(M198K)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GUncertain significance
GNAT2
Single nucleotide variant
(splice acceptor variant)
Achromatopsia
GPathogenic
GNAT2
Duplication
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(R105*)
Single nucleotide variant
(nonsense)
Achromatopsia 4
GPathogenic
GNAT2
Deletion
(splice acceptor variant +1 more)
Achromatopsia 4
GPathogenic
GNAT2
Duplication
(splice acceptor variant +1 more)
Achromatopsia 4
GPathogenic
GNAT2
(A96fs)
Indel
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(S47G)
Single nucleotide variant
(missense variant)
Achromatopsia 4
GLikely pathogenic
GNAT2
(L36R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAT2
(R161*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
GNAT2
Single nucleotide variant
(5 prime UTR variant +1 more)
Achromatopsia 4
GUncertain significance
GNAT2
Single nucleotide variant
(5 prime UTR variant +1 more)
Achromatopsia 4
GUncertain significance
GNAT2
(A5V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
(R86Q)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GNAT2
(A143T)
Single nucleotide variant
(missense variant)
Achromatopsia 4
+2 more
GConflicting classifications of pathogenicity
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
Achromatopsia 4
+1 more
GConflicting classifications of pathogenicity
GNAT2, LOC129388577
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
(L310F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAT2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GNAT2
(L107I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GNAT2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
GNAT2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GNAT2
(V124M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
GNAT2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GNAT2
Single nucleotide variant
(intron variant)
Achromatopsia 4
GConflicting classifications of pathogenicity
GNAT2
(H282fs)
Insertion
(frameshift variant)
Achromatopsia 4
GPathogenic
GNAT2
(Q79*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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