"TERT-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054795	NM_198253.3(TERT):c.*10G>A	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	TERT-related disorder	GLikely benign
Select item 834870	NM_198253.3(TERT):c.3358A>C (p.Asn1120His)	TERT (N1120H +1 more)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +2 more	GUncertain significance
Select item 242240	NM_198253.3(TERT):c.3351C>T (p.Ala1117=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 646521	NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	TERT (E1053K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 701359	NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GConflicting classifications of pathogenicity
Select item 416282	NM_198253.3(TERT):c.3252A>G (p.Arg1084=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 471885	NM_198253.3(TERT):c.3186C>T (p.Ala1062=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 701639	NM_198253.3(TERT):c.3159G>A (p.Gly1053=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +5 more	GLikely benign
Select item 1145835	NM_198253.3(TERT):c.3158-4C>T	TERT	Single nucleotide variant (intron variant)	TERT-related disorder +2 more	GLikely benign
Select item 1116199	NM_198253.3(TERT):c.3138C>T (p.Ile1046=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 698482	NM_198253.3(TERT):c.3126C>T (p.Leu1042=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GLikely benign
Select item 539224	NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)	TERT (T1030R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 639715	NM_198253.3(TERT):c.3042A>G (p.Ala1014=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 1083454	NM_198253.3(TERT):c.3032+9C>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 165377	NM_198253.3(TERT):c.3032+7C>T	TERT	Single nucleotide variant (intron variant)	TERT-related disorder +3 more	GLikely benign
Select item 1669881	NM_198253.3(TERT):c.3018G>C (p.Leu1006=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 704185	NM_198253.3(TERT):c.2982C>T (p.Leu994=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 242234	NM_198253.3(TERT):c.2971-10G>T	TERT	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1141177	NM_198253.3(TERT):c.2851C>A (p.Arg951=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +2 more	GLikely benign
Select item 836202	NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	TERT (R888W +1 more)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +5 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 471875	NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)	TERT (G915D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 539209	NM_198253.3(TERT):c.2689G>A (p.Val897Met)	TERT (V897M)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1041211	NM_198253.3(TERT):c.2655-47_2659dup	TERT	Duplication (intron variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 227098	NM_198253.3(TERT):c.2658C>A (p.Thr886=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 350633	NM_198253.3(TERT):c.2654+10G>A	TERT	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GConflicting classifications of pathogenicity
Select item 416309	NM_198253.3(TERT):c.2582+7C>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +3 more	GLikely benign
Select item 539216	NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	TERT (R858Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GBenign/Likely benign
Select item 2631048	NM_198253.3(TERT):c.2539G>A (p.Gly847Ser)	TERT (G847S)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 704108	NM_198253.3(TERT):c.2496G>A (p.Pro832=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 1790831	NM_198253.3(TERT):c.2408G>A (p.Ser803Asn)	TERT (S803N)	Single nucleotide variant (missense variant)	TERT-related disorder +2 more	GUncertain significance
Select item 350725	NM_198253.3(TERT):c.2383-15C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita +10 more	GBenign/Likely benign
Select item 1530533	NM_198253.3(TERT):c.2383-17C>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 938429	NM_198253.3(TERT):c.2382+3C>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 1058722	NM_198253.3(TERT):c.2377G>A (p.Glu793Lys)	TERT (E793K)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +5 more	GUncertain significance
Select item 701539	NM_198253.3(TERT):c.2376C>T (p.Ile792=)	TERT	Single nucleotide variant (synonymous variant)	TERT-related disorder +5 more	GLikely benign
Select item 695842	NM_198253.3(TERT):c.2370C>T (p.Val790=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GLikely benign
Select item 436985	NM_198253.3(TERT):c.2329G>A (p.Val777Met)	TERT (V777M)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 436978	NM_198253.3(TERT):c.2301A>G (p.Thr767=)	TERT	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 471860	NM_198253.3(TERT):c.2286C>T (p.His762=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 471859	NM_198253.3(TERT):c.2283C>T (p.Ser761=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 416318	NM_198253.3(TERT):c.2262C>T (p.His754=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GLikely benign
Select item 698701	NM_198253.3(TERT):c.2235C>T (p.Ala745=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 705901	NM_198253.3(TERT):c.2187C>T (p.Ile729=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 471855	NM_198253.3(TERT):c.2185A>G (p.Ile729Val)	TERT (I729V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GConflicting classifications of pathogenicity
Select item 39112	NM_198253.3(TERT):c.2178G>A (p.Thr726=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 39111	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	TERT (T726M)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 471854	NM_198253.3(TERT):c.2169C>T (p.Asp723=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 539258	NM_198253.3(TERT):c.2139G>A (p.Val713=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 416290	NM_198253.3(TERT):c.2130+10G>A	TERT	Single nucleotide variant (intron variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 1009948	NM_198253.3(TERT):c.2130+4G>T	TERT	Single nucleotide variant (intron variant)	TERT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 416305	NM_198253.3(TERT):c.2091G>A (p.Val697=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GLikely benign
Select item 12731	NM_198253.3(TERT):c.2080G>A (p.Val694Met)	TERT (V694M)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 471849	NM_198253.3(TERT):c.2079C>T (p.Phe693=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +10 more	GLikely benign
Select item 950507	NM_198253.3(TERT):c.2071C>A (p.Arg691Ser)	TERT (R691S)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +2 more	GUncertain significance
Select item 471846	NM_198253.3(TERT):c.2014C>T (p.Arg672Cys)	TERT (R672C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 242221	NM_198253.3(TERT):c.2001C>T (p.Tyr667=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GConflicting classifications of pathogenicity
Select item 539228	NM_198253.3(TERT):c.1983G>A (p.Leu661=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 416276	NM_198253.3(TERT):c.1974G>A (p.Val658=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 471843	NM_198253.3(TERT):c.1953C>T (p.Ala651=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GLikely benign
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +11 more	GLikely benign
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +13 more	GConflicting classifications of pathogenicity
Select item 539246	NM_198253.3(TERT):c.1917C>T (p.Val639=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 706284	NM_198253.3(TERT):c.1842C>T (p.Pro614=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +4 more	GLikely benign
Select item 416316	NM_198253.3(TERT):c.1836C>G (p.Ala612=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GLikely benign
Select item 772643	NM_198253.3(TERT):c.1806G>A (p.Ser602=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 653400	NM_198253.3(TERT):c.1692G>A (p.Thr564=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2051772	NM_198253.3(TERT):c.1663G>A (p.Glu555Lys)	TERT (E555K)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +4 more	GUncertain significance
Select item 697661	NM_198253.3(TERT):c.1593C>T (p.Ala531=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 2630316	NM_198253.3(TERT):c.1457G>C (p.Arg486Pro)	TERT (R486P)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 1771970	NM_198253.3(TERT):c.1409G>A (p.Arg470His)	TERT (R470H)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 539202	NM_198253.3(TERT):c.1393G>C (p.Val465Leu)	TERT (V465L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 more	GConflicting classifications of pathogenicity
Select item 242216	NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	TERT (R446S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GConflicting classifications of pathogenicity
Select item 971459	NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)	TERT (P445R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 212398	NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	TERT (E441del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis Congenita, Recessive +11 more	GConflicting classifications of pathogenicity
Select item 1758700	NM_198253.3(TERT):c.1242G>T (p.Pro414=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2630701	NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)	TERT (L392fs)	Deletion (frameshift variant +1 more)	TERT-related disorder +2 more	GPathogenic
Select item 410678	NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)	TERT (P370S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GUncertain significance
Select item 940394	NM_198253.3(TERT):c.979G>C (p.Glu327Gln)	TERT (E327Q)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +4 more	GUncertain significance
Select item 702146	NM_198253.3(TERT):c.975C>T (p.Tyr325=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 1137469	NM_198253.3(TERT):c.957G>C (p.Thr319=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GLikely benign
Select item 2633791	NM_198253.3(TERT):c.913_915delinsACA (p.Ala305Thr)	TERT (A305T)	Indel (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 539278	NM_198253.3(TERT):c.867C>T (p.Leu289=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 539214	NM_198253.3(TERT):c.863C>T (p.Ala288Val)	TERT (A288V)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +11 more	GConflicting classifications of pathogenicity
Select item 471894	NM_198253.3(TERT):c.687C>T (p.Ser229=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +2 more	GLikely benign
Select item 1584605	NM_198253.3(TERT):c.636C>T (p.Val212=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 1032592	NM_198253.3(TERT):c.628G>A (p.Ala210Thr)	TERT (A210T)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GUncertain significance
Select item 698083	NM_198253.3(TERT):c.618C>T (p.Ser206=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GLikely benign
Select item 12729	NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	TERT (A202T)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 350804	NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	TERT (S191T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +9 more	GConflicting classifications of pathogenicity
Select item 951919	NM_198253.3(TERT):c.560C>G (p.Pro187Arg)	TERT (P187R)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +2 more	GUncertain significance
Select item 471896	NM_198253.3(TERT):c.555G>C (p.Arg185=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 242242	NM_198253.3(TERT):c.534C>T (p.Leu178=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +8 more	GBenign/Likely benign
Select item 36947	NM_198253.3(TERT):c.508G>A (p.Val170Met)	TERT (V170M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 471893	NM_198253.3(TERT):c.492C>T (p.Pro164=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +4 more	GLikely benign
Select item 539231	NM_198253.3(TERT):c.481C>T (p.Leu161=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 570843	NM_198253.3(TERT):c.468C>T (p.Cys156=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GLikely benign
Select item 1163256	NM_198253.3(TERT):c.286G>A (p.Val96Met)	TERT (V96M)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +1 more	GUncertain significance
Select item 3061112	NM_198253.3(TERT):c.220-5C>A	LOC110806263, TERT	Single nucleotide variant (intron variant)	TERT-related disorder	GUncertain significance

<< First< Prev

Page of 2