Related gene-specific medical variations for Gene (Select 7015) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354133	NM_198253.3(TERT):c.-6C>A	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	TERT-related disorder	GLikely benign
Select item 3256425	NM_198253.3(TERT):c.-71G>C	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3256424	NM_198253.3(TERT):c.-31G>C	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3256423	NM_198253.3(TERT):c.-4dup	LOC110806263, TERT	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3252644	NM_198253.3(TERT):c.59A>G (p.Glu20Gly)	LOC110806263, TERT (E20G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246403	NC_000005.9:g.(?_1258693)_(1268768_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246400	NC_000005.9:g.(?_1271224)_(1297488_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246396	NC_000005.9:g.(?_1256219)_(1264507_?)del	TERT	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 3246395	NC_000005.9:g.(?_1279790)_(1280463_?)del	TERT	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
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 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 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 3240582	NM_198253.3(TERT):c.2382+28C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
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 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 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 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 3240577	NM_198253.3(TERT):c.219+2T>A	LOC110806263, TERT	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 2	GLikely pathogenic
Select item 3238581	NM_198253.3(TERT):c.114G>A (p.Leu38=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238564	NM_198253.3(TERT):c.248G>T (p.Arg83Leu)	LOC110806263, TERT (R83L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238557	NM_198253.3(TERT):c.23G>T (p.Arg8Leu)	LOC110806263, TERT (R8L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238525	NM_198253.3(TERT):c.185C>G (p.Ala62Gly)	LOC110806263, TERT (A62G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238523	NM_198253.3(TERT):c.167T>A (p.Val56Glu)	LOC110806263, TERT (V56E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238511	NM_198253.3(TERT):c.145G>C (p.Ala49Pro)	LOC110806263, TERT (A49P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238502	NM_198253.3(TERT):c.101A>C (p.Gln34Pro)	LOC110806263, TERT (Q34P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238491	NM_198253.3(TERT):c.88C>G (p.Arg30Gly)	LOC110806263, TERT (R30G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238480	NM_198253.3(TERT):c.68C>A (p.Pro23Gln)	LOC110806263, TERT (P23Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238477	NM_198253.3(TERT):c.121C>G (p.Arg41Gly)	LOC110806263, TERT (R41G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238458	NM_198253.3(TERT):c.37C>G (p.Leu13Val)	LOC110806263, TERT (L13V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3065428	NM_198253.3(TERT):c.2665C>T (p.Arg889Ter)	TERT (R889*)	Single nucleotide variant (nonsense +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 3061112	NM_198253.3(TERT):c.220-5C>A	LOC110806263, TERT	Single nucleotide variant (intron variant)	TERT-related disorder	GUncertain significance
Select item 3036157	NM_198253.3(TERT):c.-5C>A	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	TERT-related disorder	GLikely benign
Select item 3029714	NM_198253.3(TERT):c.-3G>A	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	TERT-related disorder	GLikely benign
Select item 2954154	NM_198253.3(TERT):c.220-5dup	LOC110806263, TERT	Duplication (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GBenign
Select item 2953090	NM_198253.3(TERT):c.216C>A (p.Arg72=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952160	NM_198253.3(TERT):c.110G>C (p.Arg37Pro)	LOC110806263, TERT (R37P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951977	NM_198253.3(TERT):c.135G>T (p.Ala45=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951658	NM_198253.3(TERT):c.36C>A (p.Ser12=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951505	NM_198253.3(TERT):c.16_37del (p.Arg6fs)	LOC110806263, TERT (R6fs)	Deletion (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2949913	NM_198253.3(TERT):c.67C>T (p.Pro23Ser)	LOC110806263, TERT (P23S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2948097	NM_198253.3(TERT):c.220-14C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2946767	NM_198253.3(TERT):c.131dup (p.Ala45fs)	LOC110806263, TERT (A45fs)	Duplication (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2946279	NM_198253.3(TERT):c.34T>C (p.Ser12Pro)	LOC110806263, TERT (S12P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2943198	NM_198253.3(TERT):c.233A>G (p.Lys78Arg)	LOC110806263, TERT (K78R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2943139	NM_198253.3(TERT):c.89_98del (p.Arg30fs)	LOC110806263, TERT (R30fs)	Deletion (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2942777	NM_198253.3(TERT):c.-57A>T	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2941680	NM_198253.3(TERT):c.104G>T (p.Gly35Val)	LOC110806263, TERT (G35V)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2941039	NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)	LOC110806263, TERT (A49L)	Indel (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2939602	NM_198253.3(TERT):c.219+12C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2938859	NM_198253.3(TERT):c.220-20del	LOC110806263, TERT	Deletion (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2938523	NM_198253.3(TERT):c.202G>A (p.Ala68Thr)	LOC110806263, TERT (A68T)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2934760	NM_198253.3(TERT):c.26C>T (p.Ala9Val)	LOC110806263, TERT (A9V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2933530	NM_198253.3(TERT):c.69G>T (p.Pro23=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2933326	NM_198253.3(TERT):c.121C>T (p.Arg41Cys)	LOC110806263, TERT (R41C)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2933280	NM_198253.3(TERT):c.165G>A (p.Leu55=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2932876	NM_198253.3(TERT):c.252G>C (p.Val84=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2932179	NM_198253.3(TERT):c.222G>C (p.Val74=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2928538	NM_198253.3(TERT):c.163C>T (p.Leu55=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 2928524	NM_198253.3(TERT):c.47G>A (p.Ser16Asn)	LOC110806263, TERT (S16N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2927547	NM_198253.3(TERT):c.219+19G>A	LOC110806263, TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2925380	NM_198253.3(TERT):c.40C>A (p.Leu14Met)	LOC110806263, TERT (L14M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2924232	NM_198253.3(TERT):c.220-18A>G	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2923940	NM_198253.3(TERT):c.220-19C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
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 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 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 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 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 2679139	NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)	TERT (Y707C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 2662964	NM_198253.3(TERT):c.44G>A (p.Arg15His)	LOC110806263, TERT (R15H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2454088	NM_198253.3(TERT):c.126G>A (p.Gly42=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2454063	NM_198253.3(TERT):c.33C>A (p.Arg11=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2447517	NM_198253.3(TERT):c.206C>T (p.Pro69Leu)	LOC110806263, TERT (P69L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2447516	NM_198253.3(TERT):c.55C>G (p.Arg19Gly)	LOC110806263, TERT (R19G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2447514	NM_198253.3(TERT):c.33C>T (p.Arg11=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 2443315	NM_198253.3(TERT):c.258G>C (p.Gln86His)	LOC110806263, TERT (Q86H)	Single nucleotide variant (missense variant +1 more)	Telomere syndrome	GPathogenic
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 2437043	NM_198253.3(TERT):c.1283G>A (p.Arg428Gln)	TERT (R428Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437042	NM_198253.3(TERT):c.3063_3064delinsAT (p.Phe1021_His1022delinsLeuTyr)	TERT	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2428898	NM_198253.3(TERT):c.247C>G (p.Arg83Gly)	LOC110806263, TERT (R83G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2422086	NM_198253.3(TERT):c.195C>A (p.Pro65=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2203607	NM_198253.3(TERT):c.248G>C (p.Arg83Pro)	LOC110806263, TERT (R83P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2155483	NM_198253.3(TERT):c.32G>C (p.Arg11Pro)	LOC110806263, TERT (R11P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2141435	NM_198253.3(TERT):c.49C>T (p.His17Tyr)	LOC110806263, TERT (H17Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2134897	NM_198253.3(TERT):c.105C>T (p.Gly35=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2108204	NM_198253.3(TERT):c.220-5C>G	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2077642	NM_198253.3(TERT):c.220-12C>G	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2074448	NM_198253.3(TERT):c.160T>A (p.Cys54Ser)	LOC110806263, TERT (C54S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2044495	NM_198253.3(TERT):c.23G>A (p.Arg8Gln)	LOC110806263, TERT (R8Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2041222	NM_198253.3(TERT):c.182A>G (p.Asp61Gly)	LOC110806263, TERT (D61G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2005581	NM_198253.3(TERT):c.219+19G>C	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1999258	NM_198253.3(TERT):c.220-5C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1996510	NM_198253.3(TERT):c.57C>T (p.Arg19=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1994215	NM_198253.3(TERT):c.57_58del (p.Glu20fs)	LOC110806263, TERT (E20fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 1976419	NM_198253.3(TERT):c.1574-4456_1574-4455delinsAT	LOC110806264, TERT	Indel (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1963970	NM_198253.3(TERT):c.112C>T (p.Leu38=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1954137	NM_198253.3(TERT):c.219+15G>A	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1946608	NM_198253.3(TERT):c.78G>C (p.Thr26=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1914523	NM_198253.3(TERT):c.110G>T (p.Arg37Leu)	LOC110806263, TERT (R37L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1797434	NM_198253.3(TERT):c.111G>T (p.Arg37=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign

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