"GeneDx"[submitter] AND "TERF1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 1272980	NM_017489.3(TERF1):c.285C>T (p.Ser95=)	TERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260888	NM_017489.3(TERF1):c.319+98_319+99insTCGGGAGAGAGG	TERF1	Insertion (intron variant)	not provided	GBenign
Select item 1294455	NM_017489.3(TERF1):c.415+11T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250469	NM_017489.3(TERF1):c.415+218C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241338	NM_017489.3(TERF1):c.537+199T>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276310	NM_017489.3(TERF1):c.775-298T>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294462	NM_017489.3(TERF1):c.775-214T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294460	NM_017489.3(TERF1):c.775-40A>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241756	NM_017489.3(TERF1):c.887+69G>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174354	NM_017489.3(TERF1):c.887+71C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233718	NM_017489.3(TERF1):c.888-214A>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268267	NM_017489.3(TERF1):c.947+82C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266080	NM_017489.3(TERF1):c.947+192G>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294451	NM_017489.3(TERF1):c.1040-124G>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294456	NM_017489.3(TERF1):c.1040-77T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269411	NM_017489.3(TERF1):c.1144-163C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260965	NM_017489.3(TERF1):c.1144-46T>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249955	NM_017489.3(TERF1):c.*91T>C	TERF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21