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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TINF2
(D411fs +1 more)
Deletion
(frameshift variant +1 more)
Revesz syndrome
GUncertain significance
TINF2
(L394I +1 more)
Single nucleotide variant
(missense variant +1 more)
Revesz syndrome
+3 more
GUncertain significance
TINF2
(V268L +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+4 more
GUncertain significance
TINF2
(A124V +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+1 more
GUncertain significance
TINF2
(D327H +1 more)
Single nucleotide variant
(missense variant +1 more)
Revesz syndrome
+1 more
GUncertain significance
TINF2
Deletion
(inframe_deletion)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+1 more
GUncertain significance
TINF2
(C168R +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+1 more
GUncertain significance
TINF2
(S173P +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+2 more
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 3
+3 more
GConflicting classifications of pathogenicity
TINF2
(H85D)
Single nucleotide variant
(missense variant +1 more)
Revesz syndrome
+2 more
GConflicting classifications of pathogenicity
TINF2
Single nucleotide variant
(3 prime UTR variant)
Revesz syndrome
+1 more
GBenign/Likely benign
TINF2
(V173M +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+2 more
GUncertain significance
TINF2
(K106N +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+2 more
GConflicting classifications of pathogenicity
TINF2
(P345L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
Revesz syndrome
+2 more
GLikely benign
TINF2
(A401V +1 more)
Single nucleotide variant
(missense variant +1 more)
Revesz syndrome
+2 more
GConflicting classifications of pathogenicity
TINF2
(P309S +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+3 more
GUncertain significance
TINF2
(L135F +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TINF2, LOC130055403
(C27*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis Congenita, Dominant
+1 more
GUncertain significance
TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+1 more
GUncertain significance
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+2 more
GBenign/Likely benign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+2 more
GBenign/Likely benign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+1 more
GBenign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+1 more
GBenign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GLikely benign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Revesz syndrome
+2 more
GBenign/Likely benign
LOC130055404, TINF2
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
LOC130055403, TINF2
(Q21R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+3 more
GConflicting classifications of pathogenicity
LOC130055403, TINF2
(G25A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
TINF2
(Q120R +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+3 more
GBenign/Likely benign
TINF2
Deletion
(intron variant)
Dyskeratosis Congenita, Dominant
+2 more
GConflicting classifications of pathogenicity
TINF2
Single nucleotide variant
(intron variant)
Revesz syndrome
+2 more
GConflicting classifications of pathogenicity
TINF2
(H228Y +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis Congenita, Dominant
+1 more
GUncertain significance
TINF2
(G237D +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 3
+4 more
GBenign
TINF2
(R256Q +1 more)
Single nucleotide variant
(missense variant)
Revesz syndrome
+2 more
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
TINF2-related disorder
+4 more
GBenign/Likely benign
TINF2
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign/Likely benign
TINF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign
TINF2
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 3
+2 more
GBenign/Likely benign
TINF2
Single nucleotide variant
(3 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 3
+1 more
GUncertain significance
TINF2
Single nucleotide variant
(3 prime UTR variant)
Revesz syndrome
+1 more
GBenign
TINF2
(Y312* +1 more)
Single nucleotide variant
(nonsense)
Revesz syndrome
+4 more
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 3
+5 more
GBenign/Likely benign
TGM1, TINF2
(E281K +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
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)
not specified
+4 more
GBenign/Likely benign
TINF2
(K245fs +1 more)
Deletion
(frameshift variant)
Revesz syndrome
GPathogenic
TINF2
(R282H +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 3
+4 more
GPathogenic
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