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Links from MedGen

Items: 18

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