"Ambry Genetics"[submitter] AND "TERT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 471892	NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser)	TERT (T1129S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 1730763	NM_198253.3(TERT):c.3375A>G (p.Ser1125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1717737	NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)	TERT (S1062A +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1634618	NM_198253.3(TERT):c.3372C>G (p.Pro1124=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 471891	NM_198253.3(TERT):c.3369G>A (p.Leu1123=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 471889	NM_198253.3(TERT):c.3363G>A (p.Pro1121=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GLikely benign
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 1399501	NM_198253.3(TERT):c.3352G>T (p.Ala1118Ser)	TERT (A1055S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 410677	NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr)	TERT (A1118T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 242240	NM_198253.3(TERT):c.3351C>T (p.Ala1117=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1436623	NM_198253.3(TERT):c.3350C>T (p.Ala1117Val)	TERT (A1054V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 851390	NM_198253.3(TERT):c.3349G>T (p.Ala1117Ser)	TERT (A1117S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 646521	NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	TERT (E1053K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
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 1079549	NM_198253.3(TERT):c.3342C>T (p.Ala1114=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 1061512	NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile)	TERT (T1050I +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 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 242238	NM_198253.3(TERT):c.3330G>A (p.Thr1110=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1730270	NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)	TERT (T1110A +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
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 1051681	NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg)	TERT (P1045R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 2496731	NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser)	TERT (P1045S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 748905	NM_198253.3(TERT):c.3321C>G (p.Leu1107=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
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 1730164	NM_198253.3(TERT):c.3319C>G (p.Leu1107Val)	TERT (L1044V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 649169	NM_198253.3(TERT):c.3317A>G (p.Lys1106Arg)	TERT (K1106R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 648659	NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)	TERT (S1041C +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
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 751730	NM_198253.3(TERT):c.3309G>A (p.Leu1103=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	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 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 3238607	NM_198253.3(TERT):c.3303G>T (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 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 1729897	NM_198253.3(TERT):c.3297C>T (p.Ala1099=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1729851	NM_198253.3(TERT):c.3291G>A (p.Arg1097=)	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 1568310	NM_198253.3(TERT):c.3288C>T (p.Leu1096=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1086815	NM_198253.3(TERT):c.3285A>C (p.Ser1095=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 1729760	NM_198253.3(TERT):c.3282G>T (p.Gly1094=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1729758	NM_198253.3(TERT):c.3282G>A (p.Gly1094=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1091034	NM_198253.3(TERT):c.3276C>T (p.Leu1092=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
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 1729639	NM_198253.3(TERT):c.3273A>C (p.Pro1091=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 933733	NM_198253.3(TERT):c.3272C>T (p.Pro1091Leu)	TERT (P1028L +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 701359	NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 1729569	NM_198253.3(TERT):c.3264C>T (p.Thr1088=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1729566	NM_198253.3(TERT):c.3264C>A (p.Thr1088=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1729559	NM_198253.3(TERT):c.3263C>A (p.Thr1088Asn)	TERT (T1088N +1 more)	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 1145671	NM_198253.3(TERT):c.3252A>T (p.Arg1084=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 416282	NM_198253.3(TERT):c.3252A>G (p.Arg1084=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 860881	NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)	TERT (R1021Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 2454086	NM_198253.3(TERT):c.3250C>G (p.Arg1084Gly)	TERT (R1021G +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 539261	NM_198253.3(TERT):c.3240C>T (p.Leu1080=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 1729197	NM_198253.3(TERT):c.3231A>G (p.Ala1077=)	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 2941344	NM_198253.3(TERT):c.3222C>T (p.Cys1074=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 2941386	NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)	TERT (Q1008R +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1140339	NM_198253.3(TERT):c.3210G>A (p.Val1070=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 952820	NM_198253.3(TERT):c.3208G>A (p.Val1070Met)	TERT (V1007M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1728874	NM_198253.3(TERT):c.3207C>G (p.Ala1069=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 471886	NM_198253.3(TERT):c.3207C>T (p.Ala1069=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2942851	NM_198253.3(TERT):c.3202G>C (p.Glu1068Gln)	TERT (E1068Q +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 539241	NM_198253.3(TERT):c.3201C>T (p.Ser1067=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1728719	NM_198253.3(TERT):c.3196C>T (p.Pro1066Ser)	TERT (P1066S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1728709	NM_198253.3(TERT):c.3195G>A (p.Leu1065=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1404523	NM_198253.3(TERT):c.3193C>G (p.Leu1065Val)	TERT (L1065V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 350517	NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)	TERT (P1064L +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GUncertain significance
Select item 471885	NM_198253.3(TERT):c.3186C>T (p.Ala1062=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
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 539234	NM_198253.3(TERT):c.3183C>T (p.Ala1061=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 702481	NM_198253.3(TERT):c.3180C>T (p.Gly1060=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 1392370	NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn)	TERT (K1059N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 1728451	NM_198253.3(TERT):c.3172G>A (p.Ala1058Thr)	TERT (A1058T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
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 1728436	NM_198253.3(TERT):c.3171G>A (p.Gly1057=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1728372	NM_198253.3(TERT):c.3166C>T (p.Leu1056=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1728359	NM_198253.3(TERT):c.3165G>T (p.Ser1055=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 416277	NM_198253.3(TERT):c.3165G>A (p.Ser1055=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GLikely benign
Select item 701639	NM_198253.3(TERT):c.3159G>A (p.Gly1053=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GLikely benign
Select item 1728248	NM_198253.3(TERT):c.3158-19del	TERT	Deletion (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 1728225	NM_198253.3(TERT):c.3154G>T (p.Ala1052Ser)	TERT (A1052S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
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 701721	NM_198253.3(TERT):c.3153C>T (p.Asn1051=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	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 1911790	NM_198253.3(TERT):c.3139C>T (p.Leu1047=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1728028	NM_198253.3(TERT):c.3138C>A (p.Ile1046=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1116199	NM_198253.3(TERT):c.3138C>T (p.Ile1046=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1674716	NM_198253.3(TERT):c.3135C>T (p.Ser1045=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
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 1023768	NM_198253.3(TERT):c.3134C>G (p.Ser1045Cys)	TERT (S1045C +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	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 539198	NM_198253.3(TERT):c.3117G>A (p.Thr1039=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 968868	NM_198253.3(TERT):c.3115A>G (p.Thr1039Ala)	TERT (T1039A +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2928122	NM_198253.3(TERT):c.3114C>T (p.Asp1038=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign

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