"GeneDx"[submitter] AND "TERF2IP"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 60023	GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	ADAT1, CNTNAP4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1246619	NC_000016.10:g.75647705G>A	TERF2IP	Single nucleotide variant	not provided	GBenign
Select item 1252803	NM_018975.4(TERF2IP):c.-82G>T	TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1232920	NM_018975.4(TERF2IP):c.-38C>G	TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249847	NM_018975.4(TERF2IP):c.-25C>A	KARS1, TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1238003	NM_018975.4(TERF2IP):c.671-100del	TERF2IP	Deletion (intron variant)	not provided	GBenign
Select item 1286361	NM_018975.4(TERF2IP):c.795+97G>C	TERF2IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263679	NM_018975.4(TERF2IP):c.796-247C>T	TERF2IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294453	NM_018975.4(TERF2IP):c.796-205C>T	TERF2IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic