ClinVar for Gene (Select 54386) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325475	NM_018975.4(TERF2IP):c.1157G>T (p.Gly386Val)	TERF2IP (G386V)	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 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 3325472	NM_018975.4(TERF2IP):c.1064G>C (p.Arg355Thr)	TERF2IP (R355T)	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 3325470	NM_018975.4(TERF2IP):c.949A>T (p.Ile317Phe)	TERF2IP (I317F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325469	NM_018975.4(TERF2IP):c.638C>A (p.Ala213Glu)	TERF2IP (A213E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325468	NM_018975.4(TERF2IP):c.518C>T (p.Thr173Met)	TERF2IP (T173M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3325466	NM_018975.4(TERF2IP):c.533A>C (p.Gln178Pro)	TERF2IP (Q178P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325465	NM_018975.4(TERF2IP):c.810T>C (p.Pro270=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325464	NM_018975.4(TERF2IP):c.371A>T (p.Glu124Val)	TERF2IP (E124V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325462	NM_018975.4(TERF2IP):c.819T>C (p.Phe273=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325461	NM_018975.4(TERF2IP):c.772A>G (p.Thr258Ala)	TERF2IP (T258A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325460	NM_018975.4(TERF2IP):c.372G>T (p.Glu124Asp)	TERF2IP (E124D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325459	NM_018975.4(TERF2IP):c.965T>G (p.Met322Arg)	TERF2IP (M322R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325458	NM_018975.4(TERF2IP):c.328G>A (p.Gly110Ser)	TERF2IP (G110S)	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 3325456	NM_018975.4(TERF2IP):c.318G>A (p.Ala106=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325455	NM_018975.4(TERF2IP):c.545A>T (p.Asp182Val)	TERF2IP (D182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325454	NM_018975.4(TERF2IP):c.455C>A (p.Ala152Asp)	TERF2IP (A152D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325453	NM_018975.4(TERF2IP):c.775C>A (p.Arg259=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325451	NM_018975.4(TERF2IP):c.615C>T (p.Ser205=)	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 3325449	NM_018975.4(TERF2IP):c.925C>T (p.Pro309Ser)	TERF2IP (P309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325448	NM_018975.4(TERF2IP):c.922C>G (p.Gln308Glu)	TERF2IP (Q308E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325447	NM_018975.4(TERF2IP):c.527C>G (p.Ser176Trp)	TERF2IP (S176W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325446	NM_018975.4(TERF2IP):c.393C>A (p.Ala131=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325445	NM_018975.4(TERF2IP):c.566G>C (p.Arg189Pro)	TERF2IP (R189P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325444	NM_018975.4(TERF2IP):c.265G>A (p.Glu89Lys)	TERF2IP (E89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325443	NM_018975.4(TERF2IP):c.1021G>A (p.Gly341Ser)	TERF2IP (G341S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325441	NM_018975.4(TERF2IP):c.762T>A (p.Leu254=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3325440	NM_018975.4(TERF2IP):c.594G>T (p.Gly198=)	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 3325438	NM_018975.4(TERF2IP):c.358G>C (p.Glu120Gln)	TERF2IP (E120Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325437	NM_018975.4(TERF2IP):c.1154T>C (p.Phe385Ser)	TERF2IP (F385S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325436	NM_018975.4(TERF2IP):c.242C>A (p.Thr81Lys)	TERF2IP (T81K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325435	NM_018975.4(TERF2IP):c.668G>C (p.Gly223Ala)	TERF2IP (G223A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325434	NM_018975.4(TERF2IP):c.313T>A (p.Ser105Thr)	TERF2IP (S105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325433	NM_018975.4(TERF2IP):c.316G>A (p.Ala106Thr)	TERF2IP (A106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325432	NM_018975.4(TERF2IP):c.1067C>G (p.Ala356Gly)	TERF2IP (A356G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325431	NM_018975.4(TERF2IP):c.914A>C (p.Lys305Thr)	TERF2IP (K305T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325430	NM_018975.4(TERF2IP):c.938C>T (p.Ala313Val)	TERF2IP (A313V)	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 3325427	NM_018975.4(TERF2IP):c.420C>G (p.Asp140Glu)	TERF2IP (D140E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325426	NM_018975.4(TERF2IP):c.634A>C (p.Lys212Gln)	TERF2IP (K212Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325425	NM_018975.4(TERF2IP):c.684G>A (p.Lys228=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3256320	NM_018975.4(TERF2IP):c.915A>C (p.Lys305Asn)	TERF2IP (K305N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3256319	NM_018975.4(TERF2IP):c.670+25C>A	TERF2IP	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3256318	NM_018975.4(TERF2IP):c.572A>G (p.Gln191Arg)	TERF2IP (Q191R)	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 3243661	NC_000016.9:g.(?_75690142)_(75692092_?)del	TERF2IP	Deletion	not provided	GUncertain significance
Select item 3243659	NC_000016.9:g.(?_75678161)_(75690509_?)del	KARS1, TERF2IP	Deletion	not provided	GUncertain significance
Select item 3227217	NM_018975.4(TERF2IP):c.982G>A (p.Asp328Asn)	TERF2IP (D328N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227216	NM_018975.4(TERF2IP):c.955C>A (p.Arg319=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 3227214	NM_018975.4(TERF2IP):c.933G>A (p.Val311=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227213	NM_018975.4(TERF2IP):c.923A>T (p.Gln308Leu)	TERF2IP (Q308L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227212	NM_018975.4(TERF2IP):c.917T>C (p.Val306Ala)	TERF2IP (V306A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227209	NM_018975.4(TERF2IP):c.884C>T (p.Pro295Leu)	TERF2IP (P295L)	Single nucleotide variant (missense variant +1 more)	not specified	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 3227207	NM_018975.4(TERF2IP):c.857C>T (p.Thr286Ile)	TERF2IP (T286I)	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 3227205	NM_018975.4(TERF2IP):c.832A>G (p.Thr278Ala)	TERF2IP (T278A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227204	NM_018975.4(TERF2IP):c.811C>T (p.Pro271Ser)	TERF2IP (P271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227203	NM_018975.4(TERF2IP):c.735G>C (p.Glu245Asp)	TERF2IP (E245D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227202	NM_018975.4(TERF2IP):c.731A>G (p.Gln244Arg)	TERF2IP (Q244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227201	NM_018975.4(TERF2IP):c.730C>G (p.Gln244Glu)	TERF2IP (Q244E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227200	NM_018975.4(TERF2IP):c.718A>G (p.Lys240Glu)	TERF2IP (K240E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227199	NM_018975.4(TERF2IP):c.710A>T (p.Glu237Val)	TERF2IP (E237V)	Single nucleotide variant (missense 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 3227196	NM_018975.4(TERF2IP):c.693A>G (p.Pro231=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227195	NM_018975.4(TERF2IP):c.692C>A (p.Pro231Gln)	TERF2IP (P231Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227194	NM_018975.4(TERF2IP):c.679A>G (p.Asn227Asp)	TERF2IP (N227D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227193	NM_018975.4(TERF2IP):c.669G>A (p.Gly223=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227192	NM_018975.4(TERF2IP):c.666C>T (p.Ser222=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227191	NM_018975.4(TERF2IP):c.658G>C (p.Ala220Pro)	TERF2IP (A220P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227190	NM_018975.4(TERF2IP):c.650C>T (p.Pro217Leu)	TERF2IP (P217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3227188	NM_018975.4(TERF2IP):c.636G>A (p.Lys212=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227186	NM_018975.4(TERF2IP):c.617C>T (p.Ser206Phe)	TERF2IP (S206F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227185	NM_018975.4(TERF2IP):c.612C>G (p.Pro204=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227184	NM_018975.4(TERF2IP):c.582G>A (p.Lys194=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227183	NM_018975.4(TERF2IP):c.534G>A (p.Gln178=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227182	NM_018975.4(TERF2IP):c.513G>C (p.Ser171=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227181	NM_018975.4(TERF2IP):c.467G>T (p.Ser156Ile)	TERF2IP (S156I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227180	NM_018975.4(TERF2IP):c.453T>C (p.Asn151=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227179	NM_018975.4(TERF2IP):c.433C>G (p.Leu145Val)	TERF2IP (L145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227178	NM_018975.4(TERF2IP):c.432C>G (p.Ile144Met)	TERF2IP (I144M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227176	NM_018975.4(TERF2IP):c.399G>C (p.Arg133=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227175	NM_018975.4(TERF2IP):c.396G>A (p.Gly132=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227174	NM_018975.4(TERF2IP):c.393C>T (p.Ala131=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227173	NM_018975.4(TERF2IP):c.369G>A (p.Ala123=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227172	NM_018975.4(TERF2IP):c.368C>A (p.Ala123Glu)	TERF2IP (A123E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227171	NM_018975.4(TERF2IP):c.364G>A (p.Ala122Thr)	TERF2IP (A122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227170	NM_018975.4(TERF2IP):c.354G>C (p.Leu118=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227169	NM_018975.4(TERF2IP):c.347G>A (p.Gly116Glu)	TERF2IP (G116E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227168	NM_018975.4(TERF2IP):c.345C>G (p.Pro115=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227167	NM_018975.4(TERF2IP):c.345C>A (p.Pro115=)	TERF2IP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227166	NM_018975.4(TERF2IP):c.340A>G (p.Lys114Glu)	TERF2IP (K114E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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