ClinVar for MedGen (Select 462793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367149	NM_198253.3(TERT):c.1094T>C (p.Phe365Ser)	TERT (F365S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3246403	NC_000005.9:g.(?_1258693)_(1268768_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246402	NC_000005.9:g.(?_893114)_(1272415_?)dup	NKD2, SLC12A7 +4 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246401	NC_000005.9:g.(?_1201766)_(1258794_?)dup	SLC6A18, SLC6A19 +1 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246400	NC_000005.9:g.(?_1271224)_(1297488_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246399	NC_000005.9:g.(?_1293408)_(1443312_?)dup	CLPTM1L, SLC6A3 +1 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246398	NC_000005.9:g.(?_1254473)_(1322087_?)dup	CLPTM1L, TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246396	NC_000005.9:g.(?_1256219)_(1264507_?)del	TERT	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 3246395	NC_000005.9:g.(?_1279790)_(1280463_?)del	TERT	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 3240585	NM_198253.3(TERT):c.2087_2088delinsAG (p.Arg696Gln)	TERT (R696Q)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240584	NM_198253.3(TERT):c.1469A>G (p.Asn490Ser)	TERT (N490S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240583	NM_198253.3(TERT):c.3356C>G (p.Ala1119Gly)	TERT (A1056G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240582	NM_198253.3(TERT):c.2382+28C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240581	NM_198253.3(TERT):c.2550G>T (p.Glu850Asp)	TERT (E850D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240580	NM_198253.3(TERT):c.1951-2A>C	TERT	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal dominant 2	GLikely pathogenic
Select item 3240579	NM_198253.3(TERT):c.1055C>G (p.Pro352Arg)	TERT (P352R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240578	NM_198253.3(TERT):c.1255_1257delinsTTT (p.Val419Phe)	TERT (V419F)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GUncertain significance
Select item 3240577	NM_198253.3(TERT):c.219+2T>A	LOC110806263, TERT	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 2	GLikely pathogenic
Select item 3238576	NM_198253.3(TERT):c.270G>C (p.Glu90Asp)	TERT (E90D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 3237355	NM_198253.3(TERT):c.1452A>C (p.Glu484Asp)	TERT (E484D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	GPathogenic
Select item 2954412	NM_198253.3(TERT):c.2059C>T (p.His687Tyr)	TERT (H687Y)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2954288	NM_198253.3(TERT):c.587G>A (p.Arg196His)	TERT (R196H)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2954257	NM_198253.3(TERT):c.1866C>T (p.Arg622=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2954206	NM_198253.3(TERT):c.3157+11G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2954154	NM_198253.3(TERT):c.220-5dup	LOC110806263, TERT	Duplication (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GBenign
Select item 2954114	NM_198253.3(TERT):c.433G>A (p.Gly145Ser)	TERT (G145S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2954103	NM_198253.3(TERT):c.1972G>T (p.Val658Leu)	TERT (V658L)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2953950	NM_198253.3(TERT):c.3198C>A (p.Pro1066=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2953923	NM_198253.3(TERT):c.3033-10A>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2953896	NM_198253.3(TERT):c.643G>C (p.Gly215Arg)	TERT (G215R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2953854	NM_198253.3(TERT):c.483G>T (p.Leu161=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2953692	NM_198253.3(TERT):c.633G>A (p.Gly211=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2953683	NM_198253.3(TERT):c.2469-13C>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2953590	NM_198253.3(TERT):c.2815A>C (p.Thr939Pro)	TERT (T939P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2953577	NM_198253.3(TERT):c.1574-16G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
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 2953444	NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)	TERT (W930*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2953173	NM_198253.3(TERT):c.2899G>A (p.Gly967Arg)	TERT (G967R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2953090	NM_198253.3(TERT):c.216C>A (p.Arg72=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952983	NM_198253.3(TERT):c.360C>G (p.Arg120=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952926	NM_198253.3(TERT):c.2469-10C>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952911	NM_198253.3(TERT):c.2459T>G (p.Ile820Ser)	TERT (I820S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2952894	NM_198253.3(TERT):c.1205A>G (p.Gln402Arg)	TERT (Q402R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2952837	NM_198253.3(TERT):c.1554T>C (p.Ala518=)	TERT	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952780	NM_198253.3(TERT):c.2843+15C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952739	NM_198253.3(TERT):c.3251del (p.Arg1084fs)	TERT (R1021fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2952390	NM_198253.3(TERT):c.2583-10C>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
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 2952314	NM_198253.3(TERT):c.2817C>A (p.Thr939=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952283	NM_198253.3(TERT):c.3087del (p.Thr1030fs)	TERT (T1030fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2952233	NM_198253.3(TERT):c.2286+18T>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2952160	NM_198253.3(TERT):c.110G>C (p.Arg37Pro)	LOC110806263, TERT (R37P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2952013	NM_198253.3(TERT):c.2130+1G>A	TERT	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely pathogenic
Select item 2951977	NM_198253.3(TERT):c.135G>T (p.Ala45=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951807	NM_198253.3(TERT):c.3037C>T (p.His1013Tyr)	TERT (H1013Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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 2951729	NM_198253.3(TERT):c.646C>A (p.Leu216Met)	TERT (L216M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951658	NM_198253.3(TERT):c.36C>A (p.Ser12=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951649	NM_198253.3(TERT):c.2970+3G>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2951634	NM_198253.3(TERT):c.591G>A (p.Leu197=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951576	NM_198253.3(TERT):c.2287-8G>C	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951505	NM_198253.3(TERT):c.16_37del (p.Arg6fs)	LOC110806263, TERT (R6fs)	Deletion (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2951503	NM_198253.3(TERT):c.482T>C (p.Leu161Pro)	TERT (L161P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2951367	NM_198253.3(TERT):c.2583-15T>C	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951344	NM_198253.3(TERT):c.2286+15T>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951247	NM_198253.3(TERT):c.278C>A (p.Ala93Glu)	TERT (A93E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2951174	NM_198253.3(TERT):c.2582+13C>G	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951163	NM_198253.3(TERT):c.3108C>T (p.Ile1036=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2951143	NM_198253.3(TERT):c.2087G>C (p.Arg696Pro)	TERT (R696P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2951083	NM_198253.3(TERT):c.2496G>C (p.Pro832=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950887	NM_198253.3(TERT):c.402C>G (p.Ser134Arg)	TERT (S134R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2950843	NM_198253.3(TERT):c.3033-13G>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950839	NM_198253.3(TERT):c.2883C>T (p.Asn961=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950755	NM_198253.3(TERT):c.1103C>A (p.Ser368Tyr)	TERT (S368Y)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2950754	NM_198253.3(TERT):c.2172G>A (p.Arg724=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950753	NM_198253.3(TERT):c.2253C>G (p.Ala751=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950726	NM_198253.3(TERT):c.678C>T (p.Gly226=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950701	NM_198253.3(TERT):c.2654+1G>C	TERT	Single nucleotide variant (splice donor variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely pathogenic
Select item 2950537	NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu)	TERT (Q1102E +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2950455	NM_198253.3(TERT):c.2286+11C>A	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950431	NM_198253.3(TERT):c.2471C>G (p.Ser824Cys)	TERT (S824C)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2950378	NM_198253.3(TERT):c.1628A>G (p.Lys543Arg)	TERT (K543R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 2950322	NM_198253.3(TERT):c.2655-8T>C	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2950294	NM_198253.3(TERT):c.2914C>G (p.Arg972Gly)	TERT (R972G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2950263	NM_198253.3(TERT):c.874A>C (p.Thr292Pro)	TERT (T292P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2950141	NM_198253.3(TERT):c.1070del (p.Ala357fs)	TERT (A357fs)	Deletion (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2949913	NM_198253.3(TERT):c.67C>T (p.Pro23Ser)	LOC110806263, TERT (P23S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2949891	NM_198253.3(TERT):c.518C>G (p.Pro173Arg)	TERT (P173R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2949869	NM_198253.3(TERT):c.906G>C (p.Gln302His)	TERT (Q302H)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2949770	NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro)	TERT (L1049P +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2949727	NM_198253.3(TERT):c.2559G>C (p.Leu853=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949702	NM_198253.3(TERT):c.507G>A (p.Gln169=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949682	NM_198253.3(TERT):c.970del (p.Val324fs)	TERT (V324fs)	Deletion (frameshift variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2949652	NM_198253.3(TERT):c.1407G>T (p.Leu469=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949480	NM_198253.3(TERT):c.1041C>T (p.Leu347=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949437	NM_198253.3(TERT):c.1951-14G>C	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949389	NM_198253.3(TERT):c.598G>A (p.Glu200Lys)	TERT (E200K)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2949384	NM_198253.3(TERT):c.1356C>G (p.Leu452=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 2949295	NM_198253.3(TERT):c.474C>T (p.Leu158=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GLikely benign
Select item 2949269	NM_198253.3(TERT):c.714C>T (p.Pro238=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign

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