"GeneDx"[submitter] AND "TERT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 146059	GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3	LOC110806263, LOC110806264 +10 more	Copy number gain	See cases	GUncertain significance
Select item 350515	NM_198253.3(TERT):c.*99C>T	TERT	Single nucleotide variant (3 prime UTR variant +1 more)	Aplastic anemia +4 more	GBenign
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 546283	NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu)	TERT (P1121L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 834870	NM_198253.3(TERT):c.3358A>C (p.Asn1120His)	TERT (N1120H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +4 more	GUncertain significance
Select item 242239	NM_198253.3(TERT):c.3333G>A (p.Thr1111=)	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 539203	NM_198253.3(TERT):c.3332C>T (p.Thr1111Met)	TERT (T1111M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 39122	NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)	TERT (T1110M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 1730252	NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu)	TERT (G1046E +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 165375	NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 more	GBenign
Select item 658729	NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	TERT (P1045L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GConflicting classifications of pathogenicity
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 410672	NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys)	TERT (Q1102K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 471888	NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)	TERT (T1101M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 2428889	NM_198253.3(TERT):c.3300G>C (p.Gln1100His)	TERT (Q1037H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1221238	NM_198253.3(TERT):c.3295+236G>C	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247890	NM_198253.3(TERT):c.3295+232G>A	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235722	NM_198253.3(TERT):c.3295+32A>G	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 12733	NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	TERT (V1090M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 242237	NM_198253.3(TERT):c.3257G>A (p.Arg1086His)	TERT (R1086H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 658115	NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	TERT (G1063S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GPathogenic/Likely pathogenic
Select item 39121	NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	TERT (A1062T +1 more)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GConflicting classifications of pathogenicity
Select item 647751	NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser)	TERT (A1058S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 410673	NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)	TERT (S1055L +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1190351	NM_198253.3(TERT):c.3158-133C>T	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195574	NM_198253.3(TERT):c.3158-253G>A	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178632	NM_198253.3(TERT):c.3158-323G>A	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 471883	NM_198253.3(TERT):c.3154G>A (p.Ala1052Thr)	TERT (A1052T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 350518	NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	TERT (K1050N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +6 more	GConflicting classifications of pathogenicity
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 698482	NM_198253.3(TERT):c.3126C>T (p.Leu1042=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GLikely benign
Select item 410676	NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser)	TERT (A1040S +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 410669	NM_198253.3(TERT):c.3110C>G (p.Ser1037Cys)	TERT (S1037C +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GUncertain significance
Select item 165376	NM_198253.3(TERT):c.3105C>T (p.Val1035=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +6 more	GConflicting classifications of pathogenicity
Select item 1321001	NM_198253.3(TERT):c.3100C>G (p.Arg1034Gly)	TERT (R1034G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 759269	NM_198253.3(TERT):c.3042A>T (p.Ala1014=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 39119	NM_198253.3(TERT):c.3039C>T (p.His1013=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +7 more	GBenign
Select item 1279726	NM_198253.3(TERT):c.3033-96A>G	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218807	NM_198253.3(TERT):c.3033-318G>A	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280231	NM_198253.3(TERT):c.3032+152_3032+153dup	TERT	Duplication (intron variant)	not provided	GBenign
Select item 1698110	NM_198253.3(TERT):c.3002T>C (p.Ile1001Thr)	TERT (I1001T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1188316	NM_198253.3(TERT):c.2971-200T>C	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210667	NM_198253.3(TERT):c.2970+258A>G	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182683	NM_198253.3(TERT):c.2970+140T>C	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186824	NM_198253.3(TERT):c.2970+128C>T	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440965	NM_198253.3(TERT):c.2947C>T (p.His983Tyr)	TERT (H983Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 642894	NM_198253.3(TERT):c.2887G>A (p.Gly963Ser)	TERT (G900S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539208	NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	TERT (R962C +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1318581	NM_198253.3(TERT):c.2869A>G (p.Ser957Gly)	TERT (S894G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 842944	NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)	TERT (R951Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436982	NM_198253.3(TERT):c.2844-11_2844-10del	TERT	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1202943	NM_198253.3(TERT):c.2844-122C>T	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208966	NM_198253.3(TERT):c.2844-162G>T	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188718	NM_198253.3(TERT):c.2844-246G>A	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177691	NM_198253.3(TERT):c.2844-336G>A	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260612	NM_198253.3(TERT):c.2844-337C>T	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201175	NM_198253.3(TERT):c.2843+229G>A	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163840	NM_198253.3(TERT):c.2836T>C (p.Tyr946His)	TERT (Y946H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 844747	NM_198253.3(TERT):c.2831G>A (p.Ser944Asn)	TERT (S944N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
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 539210	NM_198253.3(TERT):c.2775C>A (p.His925Gln)	TERT (H925Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 242230	NM_198253.3(TERT):c.2775C>T (p.His925=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 more	GBenign/Likely benign
Select item 36950	NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	TERT (P923L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1004721	NM_198253.3(TERT):c.2764A>T (p.Met922Leu)	TERT (M922L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 857994	NM_198253.3(TERT):c.2750C>T (p.Thr917Met)	TERT (T917M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 579584	NM_198253.3(TERT):c.2734G>A (p.Glu912Lys)	TERT (E912K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 471873	NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)	TERT (R889Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 227098	NM_198253.3(TERT):c.2658C>A (p.Thr886=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GBenign/Likely benign
Select item 951045	NM_198253.3(TERT):c.2655G>C (p.Arg885Ser)	TERT (R885S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 3363482	NM_198253.3(TERT):c.2655-5del	TERT	Deletion (intron variant)	not provided	GUncertain significance
Select item 1208403	NM_198253.3(TERT):c.2655-192C>T	TERT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 539247	NM_198253.3(TERT):c.2654+269T>C	TERT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2187579	NM_198253.3(TERT):c.2654+5G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 471872	NM_198253.3(TERT):c.2652C>T (p.Leu884=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 1794251	NM_198253.3(TERT):c.2646C>G (p.Thr882=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 1163254	NM_198253.3(TERT):c.2608T>A (p.Phe870Ile)	TERT (F870I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 12736	NM_198253.3(TERT):c.2594G>A (p.Arg865His)	TERT (R865H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1264823	NM_198253.3(TERT):c.2583-279G>C	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268439	NM_198253.3(TERT):c.2582+171T>C	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272366	NM_198253.3(TERT):c.2582+55G>A	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 350723	NM_198253.3(TERT):c.2582+11C>T	TERT	Single nucleotide variant (intron variant)	Acute myeloid leukemia +5 more	GBenign/Likely benign
Select item 471871	NM_198253.3(TERT):c.2581G>A (p.Gly861Arg)	TERT (G861R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539216	NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	TERT (R858Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 580438	NM_198253.3(TERT):c.2542G>A (p.Asp848Asn)	TERT (D848N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1014437	NM_198253.3(TERT):c.2495C>T (p.Pro832Leu)	TERT (P832L)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1274959	NM_198253.3(TERT):c.2469-99T>G	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220692	NM_198253.3(TERT):c.2469-196A>T	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270164	NM_198253.3(TERT):c.2469-258A>G	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174237	NM_198253.3(TERT):c.2468+251G>C	TERT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265268	NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)	TERT (R819C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1695951	NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)	TERT (R811C)	Indel (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GConflicting classifications of pathogenicity
Select item 576284	NM_198253.3(TERT):c.2432G>A (p.Arg811His)	TERT (R811H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 29900	NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	TERT (R811C)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 471864	NM_198253.3(TERT):c.2422G>A (p.Val808Ile)	TERT (V808I)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance

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