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Items: 1 to 100 of 393

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C, KAT5
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C, KAT5
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
+1 more
GBenign/Likely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
(K346R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KAT5, RNASEH2C
(S413A +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GPathogenic
KAT5, RNASEH2C
(R363Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT5, RNASEH2C
(E372K +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5, RNASEH2C
(M375I +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5, RNASEH2C
(G382A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
KAT5, RNASEH2C
Duplication
(3 prime UTR variant +1 more)
Aicardi Goutieres syndrome
+2 more
GBenign/Likely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT5, RNASEH2C
(E478D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KAT5, RNASEH2C
(D427N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT5, RNASEH2C
(I428F +3 more)
Single nucleotide variant
(missense variant +1 more)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
(M436T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KAT5, RNASEH2C
(L437I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KAT5, RNASEH2C
(K438R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT5, RNASEH2C
(S456T +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GLikely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C, KAT5
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GLikely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GLikely benign
KAT5, RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Insertion
(3 prime UTR variant)
Aicardi Goutieres syndrome
GUncertain significance
RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(stop lost)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(stop lost)
not specified
GUncertain significance
RNASEH2C
(D164G)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C
(D164V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(E163fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
RNASEH2C
(P162fs)
Duplication
(frameshift variant)
RNASEH2C-related disorder
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(V161A)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(Q160K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(Q160*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
RNASEH2C
(H158fs)
Deletion
(frameshift variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(H158Y)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(H158D)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(I157N)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Deletion
(intron variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Deletion
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Deletion
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Deletion
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
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