U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 393

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006061, RNASEH2C
(C34*)
Single nucleotide variant
(nonsense)
RNASEH2C-related disorder
GLikely pathogenic
RNASEH2C
(K143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNASEH2C
(D105H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT5, RNASEH2C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KAT5, RNASEH2C
(K346R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RNASEH2C
(E110Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT5, RNASEH2C
(M436T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KAT5, RNASEH2C
(M375I +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
RNASEH2C
Single nucleotide variant
(synonymous variant)
RNASEH2C-related disorder
GLikely benign
LOC130006061, RNASEH2C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RNASEH2C, LOC130006061
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 3
GLikely benign
LOC130006061, 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
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
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
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)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(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
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
(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
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
RNASEH2C
(P162fs)
Duplication
(frameshift variant)
RNASEH2C-related disorder
GUncertain significance
KAT5, RNASEH2C
(S456T +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
KAT5, RNASEH2C
(E478D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RNASEH2C
(A147fs)
Duplication
(frameshift variant)
not specified
GUncertain significance
KAT5, RNASEH2C
(D427N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RNASEH2C
(L59P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RNASEH2C
(D105N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP5B1, CFL1
+15 more
Deletion
Aicardi-Goutieres syndrome 3
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
KAT5, RNASEH2C
(G382A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KAT5, RNASEH2C
(L437I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130006061, RNASEH2C
(V14I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
Format
Items per page
Sort by
Choose Destination