"Degerman lab, Umeå University"[submitter] AND "TERC"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446379	NR_001566.1(TERC):n.407_408delinsAA	TERC	Indel	Dyskeratosis congenita, autosomal dominant 1 +1 more	GPathogenic/Likely pathogenic
Select item 446378	NR_001566.3(TERC):n.118_121GCGG[1]	LOC110806306, TERC	Microsatellite	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446377	NR_001566.3(TERC):n.107G>T	LOC110806306, TERC	Single nucleotide variant	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446376	NR_001566.3(TERC):n.69_74dup	LOC110806306, TERC	Duplication	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic

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