"GeneDx"[submitter] AND "TERC"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 1190126	NC_000003.12:g.169764347G>A	TERC	Single nucleotide variant	not provided	GLikely benign
Select item 3363972	NR_001566.3(TERC):n.392CG[3]	TERC	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 265266	NR_001566.3(TERC):n.381G>A	TERC	Single nucleotide variant	not provided	GLikely pathogenic
Select item 449106	NR_001566.3(TERC):n.319G>A	LOC110806306, TERC	Single nucleotide variant	not provided	GLikely pathogenic
Select item 39286	NR_001566.3(TERC):n.228G>A	TERC, LOC110806306	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 450523	NC_000003.12:g.169764933T>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 265599	NR_001566.3(TERC):n.107_121delGCTGACTTTCAGCGG	LOC110806306, TERC	Deletion	not provided	GPathogenic
Select item 7323	NR_001566.3(TERC):n.58G>A	TERC, LOC110806306	Single nucleotide variant	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +3 more	GBenign/Likely benign
Select item 242267	NC_000003.12:g.169765159G>C	LOC110806306, TERC	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 1186345	NC_000003.12:g.169765305C>T	LOC110806306, TERC	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic