ClinVar for MedGen (Select 766531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385331	NM_198253.3(TERT):c.1195_1210dup (p.Pro404fs)	TERT (P404fs)	Duplication (frameshift variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
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 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 2935399	NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)	TERT (A518T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 1995394	NM_198253.3(TERT):c.440A>G (p.Asp147Gly)	TERT (D147G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 1937928	NM_198253.3(TERT):c.727G>A (p.Ala243Thr)	TERT (A243T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +5 more	GUncertain significance
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)	Dyskeratosis congenita, autosomal dominant 2 +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 +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, autosomal dominant 2 +5 more	GLikely benign
Select item 1554664	NM_198253.3(TERT):c.2971-14C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 1544724	NM_198253.3(TERT):c.375C>T (p.Asn125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 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)	not specified +4 more	GUncertain significance
Select item 1412183	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)	TERT (A357G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 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)	Interstitial lung disease 2 +7 more	GUncertain significance
Select item 1297703	NM_198253.3(TERT):c.2312C>T (p.Pro771Leu)	TERT (P771L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 1229495	NM_198253.3(TERT):c.1573+39G>C	TERT	Single nucleotide variant (intron variant)	not provided +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)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GLikely pathogenic
Select item 1041211	NM_198253.3(TERT):c.2655-47_2659dup	TERT	Duplication (intron variant +1 more)	TERT-related disorder +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)	Dyskeratosis congenita +3 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 1000721	NM_198253.3(TERT):c.2452G>A (p.Val818Met)	TERT (V818M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 973676	NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	TERT (D807N)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 962201	NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)	TERT (R859Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GConflicting classifications of pathogenicity
Select item 959822	NM_198253.3(TERT):c.1201G>T (p.Ala401Ser)	TERT (A401S)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +5 more	GUncertain significance
Select item 951097	NM_198253.3(TERT):c.110G>A (p.Arg37Gln)	LOC110806263, TERT (R37Q)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +4 more	GUncertain significance
Select item 950401	NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	TERT (A880T)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GPathogenic/Likely pathogenic
Select item 934039	NM_198253.3(TERT):c.2006G>A (p.Arg669Gln)	TERT (R669Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 905914	NM_198253.3(TERT):c.*64G>A	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 905913	NM_198253.3(TERT):c.*83G>A	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 905855	NM_198253.3(TERT):c.1401C>T (p.Ala467=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 904609	NM_198253.3(TERT):c.*237C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 904608	NM_198253.3(TERT):c.*308A>G	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Aplastic anemia +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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +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)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 838858	NM_198253.3(TERT):c.1949G>A (p.Arg650Lys)	TERT (R650K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +5 more	GUncertain significance
Select item 836526	NM_198253.3(TERT):c.559C>A (p.Pro187Thr)	TERT (P187T)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +5 more	GUncertain significance
Select item 836202	NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	TERT (R888W +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +5 more	GConflicting classifications of pathogenicity
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)	Idiopathic Pulmonary Fibrosis +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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +3 more	GUncertain significance
Select item 654082	NM_198253.3(TERT):c.1760T>C (p.Ile587Thr)	TERT (I587T)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +5 more	GUncertain significance
Select item 653732	NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	TERT (P702L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +5 more	GConflicting classifications of pathogenicity
Select item 645310	NM_198253.3(TERT):c.567C>A (p.His189Gln)	TERT (H189Q)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 640934	NM_198253.3(TERT):c.1327A>C (p.Thr443Pro)	TERT (T443P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +5 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 +8 more	GConflicting classifications of pathogenicity
Select item 639452	NM_198253.3(TERT):c.999CTC[1] (p.Ser335del)	TERT (S335del)	Microsatellite (inframe_deletion +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +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)	Acute myeloid leukemia +6 more	GUncertain significance
Select item 579760	NM_198253.3(TERT):c.859G>A (p.Gly287Ser)	TERT (G287S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +6 more	GUncertain significance
Select item 579067	NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)	TERT (R671Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GConflicting classifications of pathogenicity
Select item 568674	NM_198253.3(TERT):c.1285G>A (p.Glu429Lys)	TERT (E429K)	Single nucleotide variant (missense variant +1 more)	not provided +5 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 +7 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)	RTEL1-related disorder +3 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 539216	NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	TERT (R858Q)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 9 +6 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)	Melanoma, cutaneous malignant, susceptibility to, 9 +9 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)	not provided +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)	Idiopathic Pulmonary Fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 539196	NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)	TERT (R669W)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 9 +5 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)	not provided +7 more	GUncertain significance
Select item 471904	NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	TERT (E280K)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 471902	NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	TERT (G260D)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GConflicting classifications of pathogenicity
Select item 471900	NM_198253.3(TERT):c.645C>T (p.Gly215=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +6 more	GConflicting classifications of pathogenicity
Select item 471875	NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)	TERT (G915D)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +5 more	GConflicting classifications of pathogenicity
Select item 471874	NM_198253.3(TERT):c.2702G>A (p.Arg901Gln)	TERT (R901Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +5 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)	Aplastic anemia +6 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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 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)	Aplastic anemia +8 more	GLikely benign
Select item 471839	NM_198253.3(TERT):c.1939A>C (p.Arg647=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +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)	Aplastic anemia +6 more	GConflicting classifications of pathogenicity
Select item 471815	NM_198253.3(TERT):c.1130G>A (p.Arg377His)	TERT (R377H)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GUncertain significance
Select item 446375	NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp)	TERT	Single nucleotide variant (stop lost +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	not specified +11 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 +4 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)	Idiopathic Pulmonary Fibrosis +5 more	GUncertain significance
Select item 416315	NM_198253.3(TERT):c.2190C>T (p.Ala730=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +8 more	GLikely benign
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +9 more	GBenign/Likely benign
Select item 416290	NM_198253.3(TERT):c.2130+10G>A	TERT	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 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)	Dyskeratosis congenita +10 more	GBenign/Likely benign
Select item 416276	NM_198253.3(TERT):c.1974G>A (p.Val658=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 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

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