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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
ACTRT3, LOC110806306
+1 more
Deletion
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
+3 more
GBenign/Likely benign
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
+1 more
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
+1 more
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Indel
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
+1 more
GPathogenic
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
+1 more
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
+3 more
GBenign/Likely benign
LOC110806306, TERC
Deletion
(non-coding transcript variant)
not provided
+1 more
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
+1 more
GUncertain significance
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
+1 more
GUncertain significance
LOC110806306, TERC
Deletion
(non-coding transcript variant)
Aplastic anemia
GPathogenic
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
LOC110806306
Single nucleotide variant
Paroxysmal nocturnal hemoglobinuria 1
GPathogenic
LOC110806306, TERC
Microsatellite
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
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