U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOP10
(V54G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Deletion
(intron variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
(R51C)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
(V14C)
Indel
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(Q4*)
Single nucleotide variant
(nonsense)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(Q58R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(P62L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Deletion
(intron variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
(Q26fs)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
(H31Y)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(P32R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(R43Q)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(R61C)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NHP2, RMND5B
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 2
+2 more
GBenign/Likely benign
NOP10
(D12E)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Deletion
(intron variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Duplication
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(F52L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(Q25H)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
(H31R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(F52L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(G11R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(R43G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(I48fs)
Duplication
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(A30D)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Deletion
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
LOC130056750, NOP10
Single nucleotide variant
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(A30G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Duplication
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GLikely benign
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
+1 more
GLikely benign
NOP10
(Y41fs)
Indel
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(E9D)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NOP10
(P60L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NHP2
(V64M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LOC130056750, NOP10
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
LOC130056750, NOP10
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
(L3fs)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 1
GConflicting classifications of pathogenicity
NOP10
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NOP10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
NOP10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
NOP10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
NOP10, SLC12A6
Single nucleotide variant
(3 prime UTR variant)
Agenesis of the corpus callosum with peripheral neuropathy
+3 more
GBenign/Likely benign
NOP10, SLC12A6
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis Congenita, Recessive
+3 more
GBenign/Likely benign
NOP10, SLC12A6
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
NOP10
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal recessive 1
GUncertain significance
NOP10
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
+3 more
GBenign
NHP2, RMND5B
(P82L)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita, autosomal recessive 1
+3 more
GBenign/Likely benign
NOP10
(D12H)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
+2 more
GBenign/Likely benign
TERT
(R901W)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+3 more
GConflicting classifications of pathogenicity
TERT
(R811C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NHP2, RMND5B
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
NHP2, RMND5B
(V126M)
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
NHP2, RMND5B
(Y139H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
NOP10
(R34W)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GPathogenic
Format
Items per page
Sort by
Choose Destination