TERF2IP[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 802

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	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 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 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 2576243	NM_018975.4(TERF2IP):c.-35G>A	TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1697785	NM_018975.4(TERF2IP):c.-25C>T	TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1249847	NM_018975.4(TERF2IP):c.-25C>A	KARS1, TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1802900	NM_018975.4(TERF2IP):c.-1C>T	TERF2IP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3227198	NM_018975.4(TERF2IP):c.6G>A (p.Ala2=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447521	NM_018975.4(TERF2IP):c.12G>A (p.Ala4=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1773988	NM_018975.4(TERF2IP):c.14T>C (p.Met5Thr)	TERF2IP (M5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1778333	NM_018975.4(TERF2IP):c.16G>T (p.Asp6Tyr)	TERF2IP (D6Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1785892	NM_018975.4(TERF2IP):c.20T>C (p.Leu7Ser)	TERF2IP (L7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256317	NM_018975.4(TERF2IP):c.22G>T (p.Gly8Cys)	TERF2IP (G8C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1727611	NM_018975.4(TERF2IP):c.30C>T (p.Asp10=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1731016	NM_018975.4(TERF2IP):c.33C>T (p.Pro11=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2625591	NM_018975.4(TERF2IP):c.38G>A (p.Gly13Glu)	TERF2IP (G13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1736868	NM_018975.4(TERF2IP):c.39G>A (p.Gly13=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1737830	NM_018975.4(TERF2IP):c.40C>T (p.Pro14Ser)	TERF2IP (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1738637	NM_018975.4(TERF2IP):c.41C>A (p.Pro14His)	TERF2IP (P14H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1739526	NM_018975.4(TERF2IP):c.42C>T (p.Pro14=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2448528	NM_018975.4(TERF2IP):c.43A>C (p.Thr15Pro)	TERF2IP (T15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1741028	NM_018975.4(TERF2IP):c.44C>T (p.Thr15Ile)	TERF2IP (T15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1741784	NM_018975.4(TERF2IP):c.45C>G (p.Thr15=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1742535	NM_018975.4(TERF2IP):c.46C>T (p.His16Tyr)	TERF2IP (H16Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2625596	NM_018975.4(TERF2IP):c.47A>G (p.His16Arg)	TERF2IP (H16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2625598	NM_018975.4(TERF2IP):c.48T>C (p.His16=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448552	NM_018975.4(TERF2IP):c.49T>C (p.Ser17Pro)	TERF2IP (S17P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2821262	NM_018975.4(TERF2IP):c.51C>G (p.Ser17=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2625585	NM_018975.4(TERF2IP):c.54G>C (p.Ser18=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1747966	NM_018975.4(TERF2IP):c.54G>T (p.Ser18=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2563457	NM_018975.4(TERF2IP):c.58C>A (p.Leu20Met)	TERF2IP (L20M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448525	NM_018975.4(TERF2IP):c.58C>G (p.Leu20Val)	TERF2IP (L20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1751614	NM_018975.4(TERF2IP):c.60G>C (p.Leu20=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227189	NM_018975.4(TERF2IP):c.64G>C (p.Val22Leu)	TERF2IP (V22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560494	NM_018975.4(TERF2IP):c.64G>T (p.Val22Leu)	TERF2IP (V22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2447528	NM_018975.4(TERF2IP):c.66G>T (p.Val22=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1756569	NM_018975.4(TERF2IP):c.69G>A (p.Arg23=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1758186	NM_018975.4(TERF2IP):c.72C>T (p.Asp24=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1758724	NM_018975.4(TERF2IP):c.73G>A (p.Asp25Asn)	TERF2IP (D25N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325429	NM_018975.4(TERF2IP):c.74A>G (p.Asp25Gly)	TERF2IP (D25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1759719	NM_018975.4(TERF2IP):c.75C>A (p.Asp25Glu)	TERF2IP (D25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325473	NM_018975.4(TERF2IP):c.76G>T (p.Gly26Cys)	TERF2IP (G26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1760212	NM_018975.4(TERF2IP):c.76G>A (p.Gly26Ser)	TERF2IP (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1761115	NM_018975.4(TERF2IP):c.78C>T (p.Gly26=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447540	NM_018975.4(TERF2IP):c.80G>A (p.Ser27Asn)	TERF2IP (S27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1761999	NM_018975.4(TERF2IP):c.80G>C (p.Ser27Thr)	TERF2IP (S27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2447525	NM_018975.4(TERF2IP):c.81C>G (p.Ser27Arg)	TERF2IP (S27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2447548	NM_018975.4(TERF2IP):c.83C>T (p.Ser28Phe)	TERF2IP (S28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227206	NM_018975.4(TERF2IP):c.84C>G (p.Ser28=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1908726	NM_018975.4(TERF2IP):c.85A>T (p.Met29Leu)	TERF2IP (M29L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3227208	NM_018975.4(TERF2IP):c.86T>C (p.Met29Thr)	TERF2IP (M29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1765792	NM_018975.4(TERF2IP):c.90C>T (p.Ser30=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2625587	NM_018975.4(TERF2IP):c.92T>A (p.Phe31Tyr)	TERF2IP (F31Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227215	NM_018975.4(TERF2IP):c.93C>T (p.Phe31=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448538	NM_018975.4(TERF2IP):c.100C>A (p.Arg34=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1796149	NM_018975.4(TERF2IP):c.100C>T (p.Arg34Trp)	TERF2IP (R34W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1756422	NM_018975.4(TERF2IP):c.101G>T (p.Arg34Leu)	TERF2IP (R34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1755729	NM_018975.4(TERF2IP):c.101G>A (p.Arg34Gln)	TERF2IP (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1779757	NM_018975.4(TERF2IP):c.105C>G (p.Pro35=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1782844	NM_018975.4(TERF2IP):c.106A>C (p.Ser36Arg)	TERF2IP (S36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1788809	NM_018975.4(TERF2IP):c.108C>T (p.Ser36=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447564	NM_018975.4(TERF2IP):c.109C>T (p.Pro37Ser)	TERF2IP (P37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1794724	NM_018975.4(TERF2IP):c.110C>T (p.Pro37Leu)	TERF2IP (P37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563458	NM_018975.4(TERF2IP):c.111G>C (p.Pro37=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1733569	NM_018975.4(TERF2IP):c.114C>T (p.Ala38=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1739038	NM_018975.4(TERF2IP):c.116A>C (p.Lys39Thr)	TERF2IP (K39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1741838	NM_018975.4(TERF2IP):c.117G>A (p.Lys39=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1746887	NM_018975.4(TERF2IP):c.119G>A (p.Arg40His)	TERF2IP (R40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1750089	NM_018975.4(TERF2IP):c.120T>C (p.Arg40=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447510	NM_018975.4(TERF2IP):c.122G>A (p.Arg41Gln)	TERF2IP (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1760334	NM_018975.4(TERF2IP):c.124C>T (p.Leu42=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1765048	NM_018975.4(TERF2IP):c.126G>A (p.Leu42=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1769321	NM_018975.4(TERF2IP):c.129G>A (p.Ser43=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448530	NM_018975.4(TERF2IP):c.130A>G (p.Thr44Ala)	TERF2IP (T44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1769608	NM_018975.4(TERF2IP):c.130A>T (p.Thr44Ser)	TERF2IP (T44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325471	NM_018975.4(TERF2IP):c.132G>C (p.Thr44=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1770110	NM_018975.4(TERF2IP):c.132G>A (p.Thr44=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325467	NM_018975.4(TERF2IP):c.133C>T (p.Leu45Phe)	TERF2IP (L45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1770318	NM_018975.4(TERF2IP):c.133C>G (p.Leu45Val)	TERF2IP (L45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1770315	NM_018975.4(TERF2IP):c.133C>A (p.Leu45Ile)	TERF2IP (L45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1770792	NM_018975.4(TERF2IP):c.135C>T (p.Leu45=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1771262	NM_018975.4(TERF2IP):c.137T>C (p.Ile46Thr)	TERF2IP (I46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1771502	NM_018975.4(TERF2IP):c.138C>T (p.Ile46=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

<< First< Prev

Page of 9