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Items: 1 to 100 of 278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH2C
(D164G)
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
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
(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
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
+1 more
GBenign/Likely 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
GConflicting classifications of pathogenicity
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
+2 more
GBenign/Likely benign
RNASEH2C
(A155T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(P151L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(P151S)
Single nucleotide variant
(missense variant)
Aicardi Goutieres syndrome
+2 more
GConflicting classifications of pathogenicity
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(T149S)
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
(A147V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(A147T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(G146A)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(R145L)
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
(A142G)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(P140Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
+1 more
GConflicting classifications of pathogenicity
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
(L134V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
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
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
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
(F126C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(N125S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(A124V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(A122T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Deletion
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(I120V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(F119L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(D117H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
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
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
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
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
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Items per page
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