ClinVar for MedGen (Select 462793) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 2629

<< First< Prev

Page of 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954412	NM_198253.3(TERT):c.2059C>T (p.His687Tyr)	TERT (H687Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2954257	NM_198253.3(TERT):c.1866C>T (p.Arg622=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2954206	NM_198253.3(TERT):c.3157+11G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2954154	NM_198253.3(TERT):c.220-5dup	LOC110806263, TERT	Duplication (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GBenign
Select item 2954114	NM_198253.3(TERT):c.433G>A (p.Gly145Ser)	TERT (G145S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2953950	NM_198253.3(TERT):c.3198C>A (p.Pro1066=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2953923	NM_198253.3(TERT):c.3033-10A>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2953854	NM_198253.3(TERT):c.483G>T (p.Leu161=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2953692	NM_198253.3(TERT):c.633G>A (p.Gly211=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2953683	NM_198253.3(TERT):c.2469-13C>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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 (synonymous 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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951649	NM_198253.3(TERT):c.2970+3G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951634	NM_198253.3(TERT):c.591G>A (p.Leu197=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951576	NM_198253.3(TERT):c.2287-8G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951505	NM_198253.3(TERT):c.16_37del (p.Arg6fs)	LOC110806263, TERT (R6fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2951503	NM_198253.3(TERT):c.482T>C (p.Leu161Pro)	TERT (L161P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951367	NM_198253.3(TERT):c.2583-15T>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951344	NM_198253.3(TERT):c.2286+15T>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951174	NM_198253.3(TERT):c.2582+13C>G	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2951163	NM_198253.3(TERT):c.3108C>T (p.Ile1036=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2951083	NM_198253.3(TERT):c.2496G>C (p.Pro832=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950843	NM_198253.3(TERT):c.3033-13G>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2950839	NM_198253.3(TERT):c.2883C>T (p.Asn961=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950754	NM_198253.3(TERT):c.2172G>A (p.Arg724=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2950753	NM_198253.3(TERT):c.2253C>G (p.Ala751=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2950726	NM_198253.3(TERT):c.678C>T (p.Gly226=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2950701	NM_198253.3(TERT):c.2654+1G>C	TERT	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950455	NM_198253.3(TERT):c.2286+11C>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950322	NM_198253.3(TERT):c.2655-8T>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950263	NM_198253.3(TERT):c.874A>C (p.Thr292Pro)	TERT (T292P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2950141	NM_198253.3(TERT):c.1070del (p.Ala357fs)	TERT (A357fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2949727	NM_198253.3(TERT):c.2559G>C (p.Leu853=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949702	NM_198253.3(TERT):c.507G>A (p.Gln169=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949682	NM_198253.3(TERT):c.970del (p.Val324fs)	TERT (V324fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2949652	NM_198253.3(TERT):c.1407G>T (p.Leu469=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949480	NM_198253.3(TERT):c.1041C>T (p.Leu347=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949437	NM_198253.3(TERT):c.1951-14G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +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)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2949384	NM_198253.3(TERT):c.1356C>G (p.Leu452=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949295	NM_198253.3(TERT):c.474C>T (p.Leu158=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949269	NM_198253.3(TERT):c.714C>T (p.Pro238=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2949087	NM_198253.3(TERT):c.1968G>C (p.Ser656=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948914	NM_198253.3(TERT):c.2306T>A (p.Leu769His)	TERT (L769H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948878	NM_198253.3(TERT):c.2752del (p.Ala918fs)	TERT (A918fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2948851	NM_198253.3(TERT):c.2971-8G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948764	NM_198253.3(TERT):c.1744A>T (p.Ser582Cys)	TERT (S582C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948736	NM_198253.3(TERT):c.2592G>C (p.Leu864=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948608	NM_198253.3(TERT):c.2350A>G (p.Ser784Gly)	TERT (S784G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948486	NM_198253.3(TERT):c.2911C>G (p.Arg971Gly)	TERT (R908G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948451	NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)	TERT (Q794*)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2948428	NM_198253.3(TERT):c.1672A>G (p.Arg558Gly)	TERT (R558G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948309	NM_198253.3(TERT):c.569C>G (p.Ala190Gly)	TERT (A190G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948307	NM_198253.3(TERT):c.2253C>A (p.Ala751=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948267	NM_198253.3(TERT):c.3136A>G (p.Ile1046Val)	TERT (I1046V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2948159	NM_198253.3(TERT):c.3157+13G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948097	NM_198253.3(TERT):c.220-14C>T	LOC110806263, TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948094	NM_198253.3(TERT):c.2877C>T (p.Thr959=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2948023	NM_198253.3(TERT):c.3117G>T (p.Thr1039=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2947927	NM_198253.3(TERT):c.2582+6_2582+14del	TERT	Deletion (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2947891	NM_198253.3(TERT):c.2511C>G (p.Leu837=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 2947875	NM_198253.3(TERT):c.829A>C (p.Arg277=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign

<< First< Prev

Page of 27