C3151443[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666220	NC_000005.9:g.(?_1253833)_(1258784_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 665035	NC_000005.9:g.(?_1253833)_(1255536_?)dup	TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 660150	NC_000005.9:g.(?_1253833)_(1272405_?)dup	TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 654089	NC_000005.9:g.(?_1253833)_(1253956_?)dup	TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 642636	NC_000005.9:g.(?_1253833)_(1295114_?)dup	LOC110806263, LOC110806264 +2 more	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 584278	NC_000005.9:g.(?_1253833)_(1295161_?)dup	LOC110806263, LOC110806264 +2 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 539287	NC_000005.9:g.(?_1253837)_(1295110_?)dup	LOC110806263, LOC110806264 +2 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 471813	Single allele	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2943790	NM_198253.3(TERT):c.3391C>T (p.Leu1131=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1422498	NM_198253.3(TERT):c.3386C>A (p.Thr1129Asn)	TERT (T1129N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 471892	NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser)	TERT (T1129S +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GUncertain significance
Select item 1638578	NM_198253.3(TERT):c.3381C>T (p.Phe1127=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1156060	NM_198253.3(TERT):c.3378C>T (p.Asp1126=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	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)	Hereditary cancer-predisposing syndrome +3 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)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GLikely benign
Select item 1516395	NM_198253.3(TERT):c.3371C>T (p.Pro1124Leu)	TERT (P1124L +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 471891	NM_198253.3(TERT):c.3369G>A (p.Leu1123=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GLikely benign
Select item 471890	NM_198253.3(TERT):c.3367C>G (p.Leu1123Val)	TERT (L1123V +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 471889	NM_198253.3(TERT):c.3363G>A (p.Pro1121=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign
Select item 959528	NM_198253.3(TERT):c.3362C>G (p.Pro1121Arg)	TERT (P1121R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
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 2942085	NM_198253.3(TERT):c.3361C>A (p.Pro1121Thr)	TERT (P1121T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2929792	NM_198253.3(TERT):c.3361C>G (p.Pro1121Ala)	TERT (P1121A +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2421660	NM_198253.3(TERT):c.3360C>T (p.Asn1120=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 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)	TERT-related condition +2 more	GUncertain significance
Select item 2112342	NM_198253.3(TERT):c.3355G>A (p.Ala1119Thr)	TERT (A1119T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
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 +3 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)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 242240	NM_198253.3(TERT):c.3351C>T (p.Ala1117=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related condition +4 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, autosomal dominant 2 +1 more	GUncertain significance
Select item 662421	NM_198253.3(TERT):c.3350C>A (p.Ala1117Asp)	TERT (A1054D +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 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)	Hereditary cancer-predisposing syndrome +3 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 +4 more	GConflicting classifications of pathogenicity
Select item 635414	NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln)	TERT (E1116Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	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 +3 more	GLikely benign
Select item 2934903	NM_198253.3(TERT):c.3341C>T (p.Ala1114Val)	TERT (A1114V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2951749	NM_198253.3(TERT):c.3340G>A (p.Ala1114Thr)	TERT (A1114T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1061512	NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile)	TERT (T1050I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2953565	NM_198253.3(TERT):c.3337A>C (p.Thr1113Pro)	TERT (T1113P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2941551	NM_198253.3(TERT):c.3336G>A (p.Leu1112=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 539225	NM_198253.3(TERT):c.3336G>C (p.Leu1112=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949770	NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro)	TERT (L1049P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2008547	NM_198253.3(TERT):c.3334C>T (p.Leu1112=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 816668	NM_198253.3(TERT):c.3334C>A (p.Leu1112Met)	TERT (L1049M +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1137128	NM_198253.3(TERT):c.3333G>T (p.Thr1111=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 242239	NM_198253.3(TERT):c.3333G>A (p.Thr1111=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +7 more	GConflicting classifications of pathogenicity
Select item 2941189	NM_198253.3(TERT):c.3332C>A (p.Thr1111Lys)	TERT (T1111K +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 539203	NM_198253.3(TERT):c.3332C>T (p.Thr1111Met)	TERT (T1111M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 242238	NM_198253.3(TERT):c.3330G>A (p.Thr1110=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign
Select item 39122	NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)	TERT (T1110M +1 more)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +8 more	GUncertain significance
Select item 1730270	NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)	TERT (T1110A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1366369	NM_198253.3(TERT):c.3325G>A (p.Gly1109Arg)	TERT (G1109R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2934536	NM_198253.3(TERT):c.3324G>T (p.Pro1108=)	TERT	Single nucleotide variant (non-coding transcript variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 755487	NM_198253.3(TERT):c.3324G>C (p.Pro1108=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 165375	NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 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)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 2496731	NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser)	TERT (P1045S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GUncertain significance
Select item 767361	NM_198253.3(TERT):c.3321C>T (p.Leu1107=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 748905	NM_198253.3(TERT):c.3321C>G (p.Leu1107=)	TERT	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GLikely benign
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, autosomal dominant 2 +1 more	GUncertain significance
Select item 2012497	NM_198253.3(TERT):c.3315G>C (p.Arg1105=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 860234	NM_198253.3(TERT):c.3314G>A (p.Arg1105Gln)	TERT (R1105Q +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 939229	NM_198253.3(TERT):c.3313C>T (p.Arg1105Trp)	TERT (R1042W +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 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, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 2155959	NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)	TERT (L1040V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1985074	NM_198253.3(TERT):c.3306G>A (p.Gln1102=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950537	NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu)	TERT (Q1102E +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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, autosomal dominant 2 +4 more	GUncertain significance
Select item 416285	NM_198253.3(TERT):c.3303G>A (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +10 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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2941082	NM_198253.3(TERT):c.3300G>A (p.Gln1100=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 1995991	NM_198253.3(TERT):c.3299A>G (p.Gln1100Arg)	TERT (Q1100R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2952352	NM_198253.3(TERT):c.3296-4G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2945341	NM_198253.3(TERT):c.3296-4G>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 539257	NM_198253.3(TERT):c.3296-4G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1006517	NM_198253.3(TERT):c.3296-5C>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 706751	NM_198253.3(TERT):c.3296-5C>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 700593	NM_198253.3(TERT):c.3296-7C>T	TERT	Single nucleotide variant (intron variant)	Interstitial lung disease 2 +1 more	GLikely benign
Select item 952421	NM_198253.3(TERT):c.3296-8C>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 758967	NM_198253.3(TERT):c.3296-9G>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1585033	NM_198253.3(TERT):c.3296-11T>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2931071	NM_198253.3(TERT):c.3296-15A>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2945387	NM_198253.3(TERT):c.3296-16G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1662582	NM_198253.3(TERT):c.3296-20G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2926464	NM_198253.3(TERT):c.3295+20A>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 1613940	NM_198253.3(TERT):c.3295+13G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2943838	NM_198253.3(TERT):c.3295+12T>C	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1592498	NM_198253.3(TERT):c.3295+11G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 953329	NM_198253.3(TERT):c.3295+10G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 799335	NM_198253.3(TERT):c.3295+7G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 1433476	NM_198253.3(TERT):c.3295+6T>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2029330	NM_198253.3(TERT):c.3295+5G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1407376	NM_198253.3(TERT):c.3295+5G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1349277	NM_198253.3(TERT):c.3295+2C>T	TERT	Single nucleotide variant (splice donor variant)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 1995679	NM_198253.3(TERT):c.3295+1G>A	TERT	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1356921	NM_198253.3(TERT):c.3295G>A (p.Ala1099Thr)	TERT (A1036T +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2944540	NM_198253.3(TERT):c.3292A>C (p.Thr1098Pro)	TERT (T1035P +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2941079	NM_198253.3(TERT):c.3289A>C (p.Arg1097=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign

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