"Ambry Genetics"[submitter] AND "TERF2IP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 provided +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 provided +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 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 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
Select item 1771730	NM_018975.4(TERF2IP):c.139C>T (p.Leu47=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1771718	NM_018975.4(TERF2IP):c.139C>A (p.Leu47Met)	TERF2IP (L47M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1772000	NM_018975.4(TERF2IP):c.140T>C (p.Leu47Pro)	TERF2IP (L47P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1772222	NM_018975.4(TERF2IP):c.141G>A (p.Leu47=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3227158	NM_018975.4(TERF2IP):c.144C>T (p.His48=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1773124	NM_018975.4(TERF2IP):c.145G>A (p.Gly49Ser)	TERF2IP (G49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325457	NM_018975.4(TERF2IP):c.147C>A (p.Gly49=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325439	NM_018975.4(TERF2IP):c.147C>T (p.Gly49=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2298736	NM_018975.4(TERF2IP):c.148G>T (p.Gly50Cys)	TERF2IP (G50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1773961	NM_018975.4(TERF2IP):c.149G>T (p.Gly50Val)	TERF2IP (G50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1774153	NM_018975.4(TERF2IP):c.150C>A (p.Gly50=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325450	NM_018975.4(TERF2IP):c.154A>G (p.Thr52Ala)	TERF2IP (T52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1775008	NM_018975.4(TERF2IP):c.154A>T (p.Thr52Ser)	TERF2IP (T52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1775003	NM_018975.4(TERF2IP):c.154A>C (p.Thr52Pro)	TERF2IP (T52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325474	NM_018975.4(TERF2IP):c.155C>G (p.Thr52Ser)	TERF2IP (T52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1775471	NM_018975.4(TERF2IP):c.156C>T (p.Thr52=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1775467	NM_018975.4(TERF2IP):c.156C>G (p.Thr52=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1775668	NM_018975.4(TERF2IP):c.157G>T (p.Val53Leu)	TERF2IP (V53L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1775656	NM_018975.4(TERF2IP):c.157G>A (p.Val53Met)	TERF2IP (V53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1775897	NM_018975.4(TERF2IP):c.158T>G (p.Val53Gly)	TERF2IP (V53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1777227	NM_018975.4(TERF2IP):c.164G>A (p.Arg55Gln)	TERF2IP (R55Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1777432	NM_018975.4(TERF2IP):c.165A>T (p.Arg55=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1778517	NM_018975.4(TERF2IP):c.170A>G (p.Gln57Arg)	TERF2IP (Q57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1778513	NM_018975.4(TERF2IP):c.170A>C (p.Gln57Pro)	TERF2IP (Q57P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2448546	NM_018975.4(TERF2IP):c.171G>C (p.Gln57His)	TERF2IP (Q57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1778714	NM_018975.4(TERF2IP):c.171G>A (p.Gln57=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2448532	NM_018975.4(TERF2IP):c.172G>A (p.Glu58Lys)	TERF2IP (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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