ClinVar for MedGen (Select 766536) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983511	NR_001566.1(TERC):n.95G>C	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 619284	NR_001566.1(TERC):n.36C>T	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1 +1 more	GUncertain significance
Select item 446379	NR_001566.1(TERC):n.407_408delinsAA	TERC	Indel	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more	GPathogenic/Likely pathogenic
Select item 446378	NR_001566.1(TERC):n.118GCGG[1]	TERC, LOC110806306	Microsatellite (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446377	NR_001566.1(TERC):n.107G>T	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446376	NR_001566.1(TERC):n.69_74dup	LOC110806306, TERC	Duplication (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 39293	NR_001566.1(TERC):n.37A>G	TERC, LOC110806306	Single nucleotide variant (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1 +1 more	GUncertain significance
Select item 39292	NR_001566.1(TERC):n.35C>T	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1 +1 more	GUncertain significance
Select item 39286	NR_001566.1(TERC):n.228G>A	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	not provided +3 more	GBenign/Likely benign
Select item 39282	NR_001566.1(TERC):n.143G>A	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1 +1 more	GPathogenic
Select item 36953	NR_001566.1(TERC):n.212C>G	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 7328	NR_001566.1(TERC):n.325G>T	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 7327	NR_001566.1(TERC):n.98G>A	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more	GPathogenic
Select item 7326	NR_001566.1(TERC):n.116C>T	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7325	NR_001566.1(TERC):n.110_113del	LOC110806306, TERC	Deletion (non-coding transcript variant)	Dyskeratosis congenita, autosomal dominant 1	GPathogenic
Select item 7324	NR_001566.1(TERC):n.72C>G	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more	GPathogenic
Select item 7323	NR_001566.1(TERC):n.58G>A	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	not specified +3 more	GBenign/Likely benign
Select item 7322	NR_001566.1(TERC):n.204C>G	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more	GPathogenic