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Links from MedGen

Items: 1 to 100 of 345

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006061, RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C, LOC130006061
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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, LOC130006061
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
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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
(intron 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
+1 more
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
(intron 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
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous 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
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
(A24V)
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
(L134V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous 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
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Deletion
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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, LOC130006061
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
(H158fs)
Deletion
(frameshift variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
AP5B1, CFL1
+15 more
Deletion
Aicardi-Goutieres syndrome 3
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
LOC130006061, RNASEH2C
(L29V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
LOC130006061, RNASEH2C
(V14L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(V75L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(G65D)
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
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
(G40R)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(M84T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
(G45R)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(G78A)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
RNASEH2C, LOC130006061
(P41fs)
Duplication
(frameshift variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(E108K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
(E2A)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
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
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
RNASEH2C
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 3
GLikely benign
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