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Items: 17

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:24709794
GRCh38:
Chr14:24240588
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
2.
GRCh37:
Chr14:24709815
GRCh38:
Chr14:24240609
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
3.
GRCh37:
Chr14:24709820-24709821
GRCh38:
Chr14:24240614-24240615
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
4.
GRCh37:
Chr14:24709824
GRCh38:
Chr14:24240618
TINF2Aplastic anemiaPathogenic
(May 10, 2012)
no assertion criteria provided
5.
GRCh37:
Chr14:24709826
GRCh38:
Chr14:24240620
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr14:24709836
GRCh38:
Chr14:24240630
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
7.
GRCh37:
Chr14:24709837
GRCh38:
Chr14:24240631
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
8.
GRCh37:
Chr14:24709838
GRCh38:
Chr14:24240632
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
9.
GRCh37:
Chr14:24709839
GRCh38:
Chr14:24240633
TINF2Dyskeratosis congenita autosomal dominant, not providedPathogenic
(Jun 1, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr14:24709839
GRCh38:
Chr14:24240633
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
11.
GRCh37:
Chr14:24709842
GRCh38:
Chr14:24240636
TINF2Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita, autosomal dominant, 3, not provided
Pathogenic
(Dec 20, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:24709842
GRCh38:
Chr14:24240636
TINF2Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita, autosomal dominant, 3Pathogenic
(May 10, 2012)
no assertion criteria provided
13.
GRCh37:
Chr14:24709845
GRCh38:
Chr14:24240639
TINF2Revesz syndrome, Dyskeratosis congenita autosomal dominant, Dyskeratosis Congenita, Dominant
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr14:24709848
GRCh38:
Chr14:24240642
TINF2Dyskeratosis congenita autosomal dominantPathogenic
(May 10, 2012)
no assertion criteria provided
15.
GRCh37:
Chr14:24709848
GRCh38:
Chr14:24240642
TINF2Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita, autosomal dominant, 3Pathogenic
(May 10, 2012)
no assertion criteria provided
16.
GRCh37:
Chr14:24709952
GRCh38:
Chr14:24240746
TINF2Revesz syndrome, Dyskeratosis congenita autosomal dominant, Dyskeratosis Congenita, Dominant
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr14:24709980
GRCh38:
Chr14:24240774
TINF2Revesz syndrome, Dyskeratosis congenita autosomal dominant, not specified,
Dyskeratosis Congenita, Dominant
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
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