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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TINF2
(Q263fs +1 more)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(R291G +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(P254S +1 more)
Indel
(missense variant)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(F288L +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
Gnot provided
TINF2
(L287P +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+1 more
GLikely pathogenic
TINF2
(T284A +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GLikely pathogenic
TINF2
(T284fs +1 more)
Duplication
(frameshift variant)
Dyskeratosis congenita
GPathogenic
TINF2
(P283H +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(P283S +1 more)
Single nucleotide variant
(missense variant)
TINF2-related condition
+1 more
GPathogenic/Likely pathogenic
TINF2
(P283A +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(R282C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
TINF2
(R282S +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GPathogenic
TINF2, TGM1
(E281K +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TINF2
(K280* +1 more)
Single nucleotide variant
(nonsense)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TINF2
(K280E +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TINF2
(S245Y +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+4 more
GBenign/Likely benign
TINF2
(P236S +1 more)
Single nucleotide variant
(missense variant)
TINF2-related condition
+4 more
GBenign/Likely benign
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