"Baylor Genetics"[submitter] AND "TERT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240583	NM_198253.3(TERT):c.3356C>G (p.Ala1119Gly)	TERT (A1056G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 410677	NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr)	TERT (A1118T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1061512	NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile)	TERT (T1050I +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 539203	NM_198253.3(TERT):c.3332C>T (p.Thr1111Met)	TERT (T1111M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 39122	NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)	TERT (T1110M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 658729	NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	TERT (P1045L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GConflicting classifications of pathogenicity
Select item 2155959	NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)	TERT (L1040V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 410672	NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys)	TERT (Q1102K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 12733	NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	TERT (V1090M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 242237	NM_198253.3(TERT):c.3257G>A (p.Arg1086His)	TERT (R1086H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 952820	NM_198253.3(TERT):c.3208G>A (p.Val1070Met)	TERT (V1007M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 658115	NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	TERT (G1063S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GPathogenic/Likely pathogenic
Select item 410673	NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)	TERT (S1055L +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1728225	NM_198253.3(TERT):c.3154G>T (p.Ala1052Ser)	TERT (A1052S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 350518	NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	TERT (K1050N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +6 more	GConflicting classifications of pathogenicity
Select item 813589	NM_198253.3(TERT):c.2914C>T (p.Arg972Cys)	TERT (R972C +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 539208	NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	TERT (R962C +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 665677	NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)	TERT (R938Q)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +3 more	GUncertain significance
Select item 539210	NM_198253.3(TERT):c.2775C>A (p.His925Gln)	TERT (H925Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 471875	NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)	TERT (G915D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 904812	NM_198253.3(TERT):c.2626C>A (p.His876Asn)	TERT (H876N)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 12736	NM_198253.3(TERT):c.2594G>A (p.Arg865His)	TERT (R865H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 539216	NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	TERT (R858Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3240581	NM_198253.3(TERT):c.2550G>T (p.Glu850Asp)	TERT (E850D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 2679146	NM_198253.3(TERT):c.2470T>C (p.Ser824Pro)	TERT (S824P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 2664729	NM_198253.3(TERT):c.2468+103G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 410691	NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)	TERT (G822D)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1413839	NM_198253.3(TERT):c.2455C>A (p.Arg819Ser)	TERT (R819S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 648802	NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)	TERT (A817T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 1695951	NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)	TERT (R811C)	Indel (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GConflicting classifications of pathogenicity
Select item 2936956	NM_198253.3(TERT):c.2402C>T (p.Ala801Val)	TERT (A801V)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 834920	NM_198253.3(TERT):c.2387C>T (p.Ser796Phe)	TERT (S796F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 3240582	NM_198253.3(TERT):c.2382+28C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 242228	NM_198253.3(TERT):c.2371G>A (p.Val791Ile)	TERT (V791I)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GConflicting classifications of pathogenicity
Select item 2679141	NM_198253.3(TERT):c.2329G>T (p.Val777Leu)	TERT (V777L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 656513	NM_198253.3(TERT):c.2321G>A (p.Arg774Gln)	TERT (R774Q)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +10 more	GConflicting classifications of pathogenicity
Select item 640939	NM_198253.3(TERT):c.2267G>A (p.Arg756His)	TERT (R756H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 665424	NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)	TERT (A751T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 1897430	NM_198253.3(TERT):c.2224C>T (p.Arg742Cys)	TERT (R742C)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 652891	NM_198253.3(TERT):c.2221G>T (p.Val741Leu)	TERT (V741L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 471857	NM_198253.3(TERT):c.2221G>A (p.Val741Met)	TERT (V741M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +6 more	GUncertain significance
Select item 854002	NM_198253.3(TERT):c.2213C>T (p.Thr738Met)	TERT (T738M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 1485386	NM_198253.3(TERT):c.2209A>G (p.Asn737Asp)	TERT (N737D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 471856	NM_198253.3(TERT):c.2188G>A (p.Ala730Thr)	TERT (A730T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 39111	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	TERT (T726M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 1786840	NM_198253.3(TERT):c.2158A>G (p.Ile720Val)	TERT (I720V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2679139	NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)	TERT (Y707C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 39108	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	TERT (P704S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3240585	NM_198253.3(TERT):c.2087_2088delinsAG (p.Arg696Gln)	TERT (R696Q)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 839241	NM_198253.3(TERT):c.2015G>A (p.Arg672His)	TERT (R672H)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1908334	NM_198253.3(TERT):c.1988G>A (p.Ser663Asn)	TERT (S663N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2313174	NM_198253.3(TERT):c.1978G>T (p.Ala660Ser)	TERT (A660S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 471844	NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)	TERT (R653C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GConflicting classifications of pathogenicity
Select item 539205	NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)	TERT (E652K)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GConflicting classifications of pathogenicity
Select item 3240580	NM_198253.3(TERT):c.1951-2A>C	TERT	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal dominant 2	GLikely pathogenic
Select item 242220	NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)	TERT (R646C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +12 more	GConflicting classifications of pathogenicity
Select item 654952	NM_198253.3(TERT):c.1924G>A (p.Ala642Thr)	TERT (A642T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 410692	NM_198253.3(TERT):c.1907T>C (p.Met636Thr)	TERT (M636T)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1438214	NM_198253.3(TERT):c.1904A>G (p.Asn635Ser)	TERT (N635S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 539204	NM_198253.3(TERT):c.1880C>G (p.Pro627Arg)	TERT (P627R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 954781	NM_198253.3(TERT):c.1828C>T (p.Arg610Trp)	TERT (R610W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2679142	NM_198253.3(TERT):c.1814A>G (p.Glu605Gly)	TERT (E605G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 648775	NM_198253.3(TERT):c.1805C>T (p.Ser602Leu)	TERT (S602L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 654082	NM_198253.3(TERT):c.1760T>C (p.Ile587Thr)	TERT (I587T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 570647	NM_198253.3(TERT):c.1730G>A (p.Arg577Gln)	TERT (R577Q)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 1778622	NM_198253.3(TERT):c.1715G>A (p.Arg572Lys)	TERT (R572K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 643847	NM_198253.3(TERT):c.1625C>T (p.Ala542Val)	TERT (A542V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 998226	NM_198253.3(TERT):c.1624G>T (p.Ala542Ser)	TERT (A542S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 568528	NM_198253.3(TERT):c.1615G>A (p.Glu539Lys)	TERT (E539K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 539211	NM_198253.3(TERT):c.1604G>A (p.Arg535His)	TERT (R535H)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GUncertain significance
Select item 242218	NM_198253.3(TERT):c.1589C>T (p.Pro530Leu)	TERT (P530L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 973675	NM_198253.3(TERT):c.1565G>A (p.Arg522Lys)	TERT (R522K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1711599	NM_198253.3(TERT):c.1562G>A (p.Arg521His)	TERT (R521H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 471824	NM_198253.3(TERT):c.1514T>A (p.Leu505Gln)	TERT (L505Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 3240584	NM_198253.3(TERT):c.1469A>G (p.Asn490Ser)	TERT (N490S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 539182	NM_198253.3(TERT):c.1417G>C (p.Val473Leu)	TERT (V473L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 574952	NM_198253.3(TERT):c.1411C>T (p.Arg471Trp)	TERT (R471W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2442130	NM_198253.3(TERT):c.1358G>A (p.Arg453His)	TERT (R453H)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 840740	NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)	TERT (R447C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GConflicting classifications of pathogenicity
Select item 2679140	NM_198253.3(TERT):c.1322_1336dup (p.Pro445_Arg446insGlnAspThrAspPro)	TERT	Duplication (inframe insertion +2 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 1056210	NM_198253.3(TERT):c.1336C>T (p.Arg446Cys)	TERT (R446C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 242215	NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)	TERT (D444G)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 410684	NM_198253.3(TERT):c.1315G>C (p.Glu439Gln)	TERT (E439Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3240578	NM_198253.3(TERT):c.1255_1257delinsTTT (p.Val419Phe)	TERT (V419F)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 410686	NM_198253.3(TERT):c.1211C>G (p.Pro404Arg)	TERT (P404R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 576272	NM_198253.3(TERT):c.1210C>G (p.Pro404Ala)	TERT (P404A)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 1447353	NM_198253.3(TERT):c.1142G>A (p.Arg381His)	TERT (R381H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 3240579	NM_198253.3(TERT):c.1055C>G (p.Pro352Arg)	TERT (P352R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 840092	NM_198253.3(TERT):c.1046C>T (p.Ser349Phe)	TERT (S349F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 639452	NM_198253.3(TERT):c.999CTC[1] (p.Ser335del)	TERT (S335del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 940394	NM_198253.3(TERT):c.979G>C (p.Glu327Gln)	TERT (E327Q)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 573273	NM_198253.3(TERT):c.878G>T (p.Arg293Leu)	TERT (R293L)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 539214	NM_198253.3(TERT):c.863C>T (p.Ala288Val)	TERT (A288V)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 2679145	NM_198253.3(TERT):c.799G>C (p.Asp267His)	TERT (D267H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 471902	NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	TERT (G260D)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +4 more	GConflicting classifications of pathogenicity
Select item 2679144	NM_198253.3(TERT):c.698C>T (p.Pro233Leu)	TERT (P233L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 1041832	NM_198253.3(TERT):c.670C>G (p.Arg224Gly)	TERT (R224G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1032592	NM_198253.3(TERT):c.628G>A (p.Ala210Thr)	TERT (A210T)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +3 more	GUncertain significance

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