ClinVar for Gene (Select 7015) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380993	NM_198253.3(TERT):c.383C>T (p.Thr128Ile)	TERT (T128I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3379579	NM_198253.3(TERT):c.1619T>C (p.Ile540Thr)	TERT (I540T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377095	NM_198253.3(TERT):c.3033-2A>C	TERT	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 3376694	NM_198253.3(TERT):c.2129A>G (p.Lys710Arg)	TERT (K710R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3372267	NM_198253.3(TERT):c.1373C>T (p.Pro458Leu)	TERT (P458L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369869	NM_198253.3(TERT):c.926C>T (p.Ser309Phe)	TERT (S309F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369820	NM_198253.3(TERT):c.749C>T (p.Pro250Leu)	TERT (P250L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367232	NM_198253.3(TERT):c.1081G>A (p.Val361Met)	TERT (V361M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367149	NM_198253.3(TERT):c.1094T>C (p.Phe365Ser)	TERT (F365S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3363482	NM_198253.3(TERT):c.2655-5del	TERT	Deletion (intron variant)	not provided	GUncertain significance
Select item 3362835	NM_198253.3(TERT):c.2300C>G (p.Thr767Arg)	TERT (T767R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
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 3351758	NM_198253.3(TERT):c.2469-6C>A	TERT	Single nucleotide variant (intron variant)	TERT-related disorder	GLikely benign
Select item 3347940	NM_198253.3(TERT):c.3374C>T (p.Ser1125Leu)	TERT (S1062L +1 more)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 3344177	NM_198253.3(TERT):c.1718T>A (p.Leu573His)	TERT (L573H)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 3344162	NM_198253.3(TERT):c.1993C>T (p.Leu665Phe)	TERT (L665F)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder	GUncertain significance
Select item 3340812	NM_198253.3(TERT):c.2030G>A (p.Gly677Asp)	TERT (G677D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339919	NM_198253.3(TERT):c.1372C>T (p.Pro458Ser)	TERT (P458S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338863	NM_198253.3(TERT):c.3148A>G (p.Lys1050Glu)	TERT (K1050E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3256426	NM_198253.3(TERT):c.-86C>T	LOC110806263, TERT	Single nucleotide variant	not specified	GUncertain significance
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 3246402	NC_000005.9:g.(?_893114)_(1272415_?)dup	NKD2, SLC12A7 +4 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246401	NC_000005.9:g.(?_1201766)_(1258794_?)dup	SLC6A18, SLC6A19 +1 more	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 3246399	NC_000005.9:g.(?_1293408)_(1443312_?)dup	CLPTM1L, SLC6A3 +1 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246398	NC_000005.9:g.(?_1254473)_(1322087_?)dup	CLPTM1L, 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 3238615	NM_198253.3(TERT):c.363C>T (p.Ser121=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238614	NM_198253.3(TERT):c.350C>T (p.Thr117Ile)	TERT (T117I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238613	NM_198253.3(TERT):c.3387C>T (p.Thr1129=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238612	NM_198253.3(TERT):c.3343C>G (p.Leu1115Val)	TERT (L1052V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238611	NM_198253.3(TERT):c.3320T>A (p.Leu1107His)	TERT (L1044H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 3238610	NM_198253.3(TERT):c.3319C>T (p.Leu1107Phe)	TERT (L1044F +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238609	NM_198253.3(TERT):c.3309G>C (p.Leu1103=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238608	NM_198253.3(TERT):c.3307C>T (p.Leu1103=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238607	NM_198253.3(TERT):c.3303G>T (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238606	NM_198253.3(TERT):c.3289A>G (p.Arg1097Gly)	TERT (R1034G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238605	NM_198253.3(TERT):c.3273A>G (p.Pro1091=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238604	NM_198253.3(TERT):c.326G>A (p.Gly109Glu)	TERT (G109E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238603	NM_198253.3(TERT):c.3257G>T (p.Arg1086Leu)	TERT (R1023L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238602	NM_198253.3(TERT):c.3240C>G (p.Leu1080=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238601	NM_198253.3(TERT):c.3227A>C (p.Gln1076Pro)	TERT (Q1013P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238600	NM_198253.3(TERT):c.2436C>A (p.Phe812Leu)	TERT (F812L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GLikely benign
Select item 3238599	NM_198253.3(TERT):c.317G>C (p.Gly106Ala)	TERT (G106A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238598	NM_198253.3(TERT):c.1174C>T (p.Leu392=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238597	NM_198253.3(TERT):c.3145G>C (p.Ala1049Pro)	TERT (A1049P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238596	NM_198253.3(TERT):c.3134C>T (p.Ser1045Phe)	TERT (S1045F +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238595	NM_198253.3(TERT):c.311T>A (p.Leu104Gln)	TERT (L104Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238594	NM_198253.3(TERT):c.3106A>G (p.Ile1036Val)	TERT (I1036V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238593	NM_198253.3(TERT):c.308T>G (p.Leu103Arg)	TERT (L103R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238592	NM_198253.3(TERT):c.307C>G (p.Leu103Val)	TERT (L103V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238591	NM_198253.3(TERT):c.2996C>A (p.Thr999Asn)	TERT (T936N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238590	NM_198253.3(TERT):c.2988G>T (p.Thr996=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238589	NM_198253.3(TERT):c.2973G>C (p.Val991=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238588	NM_198253.3(TERT):c.2971G>A (p.Val991Met)	TERT (V928M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238587	NM_198253.3(TERT):c.2953C>T (p.Leu985=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238586	NM_198253.3(TERT):c.294C>T (p.Ala98=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238585	NM_198253.3(TERT):c.291G>A (p.Leu97=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238584	NM_198253.3(TERT):c.2885G>C (p.Arg962Pro)	TERT (R899P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238583	NM_198253.3(TERT):c.1152G>T (p.Gln384His)	TERT (Q384H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238582	NM_198253.3(TERT):c.2810C>G (p.Thr937Ser)	TERT (T937S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 3238580	NM_198253.3(TERT):c.2766G>T (p.Met922Ile)	TERT (M922I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238579	NM_198253.3(TERT):c.2762A>G (p.Gln921Arg)	TERT (Q921R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238578	NM_198253.3(TERT):c.1147C>T (p.Pro383Ser)	TERT (P383S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238577	NM_198253.3(TERT):c.2733C>A (p.Asp911Glu)	TERT (D911E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238576	NM_198253.3(TERT):c.270G>C (p.Glu90Asp)	TERT (E90D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 3238575	NM_198253.3(TERT):c.2700G>A (p.Leu900=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238574	NM_198253.3(TERT):c.2687G>A (p.Cys896Tyr)	TERT (C896Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238573	NM_198253.3(TERT):c.2679G>A (p.Glu893=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238572	NM_198253.3(TERT):c.2665C>G (p.Arg889Gly)	TERT (R889G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238571	NM_198253.3(TERT):c.2664C>G (p.Val888=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238570	NM_198253.3(TERT):c.2653A>G (p.Arg885Gly)	TERT (R885G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238569	NM_198253.3(TERT):c.1142G>T (p.Arg381Leu)	TERT (R381L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238568	NM_198253.3(TERT):c.2634C>T (p.Thr878=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238567	NM_198253.3(TERT):c.2622A>C (p.Thr874=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238566	NM_198253.3(TERT):c.2611T>C (p.Leu871=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238565	NM_198253.3(TERT):c.2575C>A (p.Arg859=)	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 3238563	NM_198253.3(TERT):c.2482T>A (p.Cys828Ser)	TERT (C828S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238562	NM_198253.3(TERT):c.2460C>G (p.Ile820Met)	TERT (I820M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238561	NM_198253.3(TERT):c.1134G>A (p.Arg378=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238560	NM_198253.3(TERT):c.2435T>C (p.Phe812Ser)	TERT (F812S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238559	NM_198253.3(TERT):c.2427C>T (p.Phe809=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3238558	NM_198253.3(TERT):c.2415C>A (p.Leu805=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
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

<< First< Prev

Page of 10