ClinVar for MedGen (Select 766531) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 141

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237356	NM_198253.3(TERT):c.2053_2055del (p.Asp685del)	TERT (D685del)	Deletion (inframe_deletion +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GPathogenic
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 1696408	NM_198253.3(TERT):c.2959C>G (p.Leu987Val)	TERT (L924V +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +1 more	GUncertain significance
Select item 1695952	NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)	TERT (E800K)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 1686801	NM_198253.3(TERT):c.1601A>G (p.His534Arg)	TERT (H534R)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 1686800	NM_198253.3(TERT):c.2583-2A>T	TERT	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1686799	NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)	TERT (F809fs)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 1686798	NM_198253.3(TERT):c.2131-2A>G	TERT	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GLikely pathogenic
Select item 1670589	NM_198253.3(TERT):c.2007G>A (p.Arg669=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GLikely benign
Select item 1544724	NM_198253.3(TERT):c.375C>T (p.Asn125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +8 more	GLikely benign
Select item 1433750	NM_198253.3(TERT):c.2152G>A (p.Asp718Asn)	TERT (D718N)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 1412183	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)	TERT (A357G)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +8 more	GUncertain significance
Select item 1390895	NM_198253.3(TERT):c.124G>C (p.Gly42Arg)	LOC110806263, TERT (G42R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GUncertain significance
Select item 1229495	NM_198253.3(TERT):c.1573+39G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GBenign
Select item 1065578	NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)	TERT (A1009V +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely pathogenic
Select item 1041211	NM_198253.3(TERT):c.2655-47_2659dup	TERT	Duplication (intron variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 1038168	NM_198253.3(TERT):c.1364A>T (p.His455Leu)	TERT (H455L)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1013653	NM_198253.3(TERT):c.2912G>A (p.Arg971His)	TERT (R908H +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GConflicting classifications of pathogenicity
Select item 973676	NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	TERT (D807N)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 950401	NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	TERT (A880T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GPathogenic/Likely pathogenic
Select item 906429	NM_198253.3(TERT):c.696G>T (p.Leu232=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 906428	NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)	TERT (S255Y)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GUncertain significance
Select item 906295	NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)	TERT (E668A)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 905979	NM_198253.3(TERT):c.3101G>A (p.Arg1034His)	TERT (R1034H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 905914	NM_198253.3(TERT):c.*64G>A	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 905913	NM_198253.3(TERT):c.*83G>A	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 905855	NM_198253.3(TERT):c.1401C>T (p.Ala467=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 904814	NM_198253.3(TERT):c.875C>G (p.Thr292Arg)	TERT (T292R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GUncertain significance
Select item 904812	NM_198253.3(TERT):c.2626C>A (p.His876Asn)	TERT (H876N)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GUncertain significance
Select item 904609	NM_198253.3(TERT):c.*237C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Aplastic anemia +2 more	GUncertain significance
Select item 904608	NM_198253.3(TERT):c.*308A>G	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 904607	NM_198253.3(TERT):c.*339T>C	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 904102	NM_198253.3(TERT):c.483G>C (p.Leu161=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 862152	NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly)	TERT (L103G)	Indel (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 847848	NM_198253.3(TERT):c.847A>C (p.Thr283Pro)	TERT (T283P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 847395	NM_198253.3(TERT):c.908A>T (p.His303Leu)	TERT (H303L)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +3 more	GUncertain significance
Select item 816669	NM_198253.3(TERT):c.345C>G (p.Phe115Leu)	TERT (F115L)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 816668	NM_198253.3(TERT):c.3334C>A (p.Leu1112Met)	TERT (L1049M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 758712	NM_198253.3(TERT):c.1110C>G (p.Pro370=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +8 more	GLikely benign
Select item 658729	NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	TERT (P1045L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 656513	NM_198253.3(TERT):c.2321G>A (p.Arg774Gln)	TERT (R774Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 639956	NM_198253.3(TERT):c.895G>A (p.Val299Met)	TERT (V299M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 1 +7 more	GConflicting classifications of pathogenicity
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 638818	NM_198253.3(TERT):c.902G>A (p.Arg301His)	TERT (R301H)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GUncertain significance
Select item 567770	NM_198253.3(TERT):c.2263G>A (p.Val755Ile)	TERT (V755I)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 565378	NM_198253.3(TERT):c.1304T>A (p.Val435Glu)	TERT (V435E)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GUncertain significance
Select item 555961	NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)	RTEL1, RTEL1-TNFRSF6B (K877del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 539242	NM_198253.3(TERT):c.189G>A (p.Arg63=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +4 more	GConflicting classifications of pathogenicity
Select item 539239	NM_198253.3(TERT):c.2523C>G (p.Leu841=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +4 more	GConflicting classifications of pathogenicity
Select item 539214	NM_198253.3(TERT):c.863C>T (p.Ala288Val)	TERT (A288V)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +10 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)	Aplastic anemia +9 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)	TERT-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 523957	NM_198253.3(TERT):c.2991del (p.Cys998fs)	TERT (C935fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 471906	NM_198253.3(TERT):c.968C>G (p.Pro323Arg)	TERT (P323R)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +5 more	GUncertain significance
Select item 471900	NM_198253.3(TERT):c.645C>T (p.Gly215=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 471870	NM_198253.3(TERT):c.2580C>T (p.Asp860=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 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)	not provided +6 more	GUncertain significance
Select item 471849	NM_198253.3(TERT):c.2079C>T (p.Phe693=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 more	GLikely benign
Select item 471839	NM_198253.3(TERT):c.1939A>C (p.Arg647=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GConflicting classifications of pathogenicity
Select item 471818	NM_198253.3(TERT):c.1269C>T (p.Ala423=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 more	GConflicting classifications of pathogenicity
Select item 446375	NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp)	TERT	Single nucleotide variant (stop lost +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
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 446372	NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)	TERT (D684G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436993	NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)	TERT (R194*)	Indel (nonsense +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GPathogenic
Select item 424177	NM_198253.3(TERT):c.2072G>A (p.Arg691His)	TERT (R691H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 416315	NM_198253.3(TERT):c.2190C>T (p.Ala730=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GLikely benign
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +10 more	GLikely benign
Select item 416290	NM_198253.3(TERT):c.2130+10G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +7 more	GConflicting classifications of pathogenicity
Select item 416285	NM_198253.3(TERT):c.3303G>A (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GLikely benign
Select item 416276	NM_198253.3(TERT):c.1974G>A (p.Val658=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 410687	NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	TERT (T714M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 410683	NM_198253.3(TERT):c.159G>C (p.Gln53His)	LOC110806263, TERT (Q53H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 410678	NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)	TERT (P370S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 more	GUncertain significance
Select item 410675	NM_198253.3(TERT):c.1562G>T (p.Arg521Leu)	TERT (R521L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 410651	NM_198253.3(TERT):c.336dup (p.Glu113fs)	TERT (E113fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GPathogenic/Likely pathogenic
Select item 350805	NM_198253.3(TERT):c.219+7C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	TERT-related disorder +6 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)	Idiopathic Pulmonary Fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 350803	NM_198253.3(TERT):c.663G>T (p.Ala221=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 350802	NM_198253.3(TERT):c.880C>T (p.His294Tyr)	TERT (H294Y)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 350725	NM_198253.3(TERT):c.2383-15C>T	TERT	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 350724	NM_198253.3(TERT):c.2391C>G (p.Ser797=)	TERT	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 350723	NM_198253.3(TERT):c.2582+11C>T	TERT	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 350633	NM_198253.3(TERT):c.2654+10G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 350629	NM_198253.3(TERT):c.2781A>G (p.Leu927=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 350593	NM_198253.3(TERT):c.2886C>T (p.Arg962=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 350518	NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	TERT (K1050N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 350517	NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)	TERT (P1064L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 350516	NM_198253.3(TERT):c.*63C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 350515	NM_198253.3(TERT):c.*99C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 350514	NM_198253.3(TERT):c.*104C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 350513	NM_198253.3(TERT):c.*153C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GBenign
Select item 350512	NM_198253.3(TERT):c.*230T>C	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 289326	NM_198253.3(TERT):c.150G>A (p.Leu50=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 268080	NM_198253.3(TERT):c.887A>C (p.His296Pro)	TERT (H296P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GConflicting classifications of pathogenicity
Select item 263108	NM_198253.3(TERT):c.2520G>A (p.Leu840=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +5 more	GBenign/Likely benign
Select item 263107	NM_198253.3(TERT):c.2517G>A (p.Thr839=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +7 more	GBenign/Likely benign
Select item 263104	NM_198253.3(TERT):c.1849C>T (p.Leu617=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +7 more	GConflicting classifications of pathogenicity
Select item 242683	NM_198253.3(TERT):c.2599G>A (p.Val867Met)	TERT (V867M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 242242	NM_198253.3(TERT):c.534C>T (p.Leu178=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign

<< First< Prev

Page of 2