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Links from MedGen

Items: 1 to 100 of 447

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH2B
(E273V)
Single nucleotide variant
(missense variant +1 more)
Aicardi-Goutieres syndrome 2
GUncertain significance
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Deletion
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Deletion
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Deletion
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 2
GLikely pathogenic
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
(S28*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 2
GPathogenic
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Deletion
(intron variant)
Aicardi-Goutieres syndrome 2
GBenign
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
(Y23*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 2
GPathogenic
RNASEH2B
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 2
GLikely pathogenic
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 2
GLikely pathogenic
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Duplication
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
(V171fs)
Duplication
(frameshift variant)
Aicardi-Goutieres syndrome 2
GPathogenic
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 2
GLikely pathogenic
RNASEH2B
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
(S217fs)
Deletion
(frameshift variant)
Aicardi-Goutieres syndrome 2
GPathogenic
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Deletion
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(splice acceptor variant)
Aicardi-Goutieres syndrome 2
GLikely pathogenic
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 2
GLikely benign
LOC130009810, RNASEH2B
+1 more
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
RNASEH2B
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 2
GLikely benign
Format
Items per page
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