7012[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 972905	NC_000003.12:g.(?_169481351)_(169484227_?)del	MECOM, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 972906	NC_000003.12:g.169482484_169482497del	MECOM, TERC	Deletion (intron variant)	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 916673	NC_000003.12:g.169482735del	MECOM, TERC	Deletion (intron variant)	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 916672	NC_000003.12:g.169482734_169482735del	MECOM, TERC	Deletion (intron variant)	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 7319	NR_001566.1(TERC):n.374_1194del821	LOC129937871, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1190126	NC_000003.12:g.169764347G>A	TERC	Single nucleotide variant	not provided	GLikely benign
Select item 440330	NR_001566.1(TERC):n.514A>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1 +2 more	GBenign
Select item 2764141	NR_001566.3(TERC):n.450dup	TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 410642	NC_000003.12:g.169764610G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1043360	NR_001566.3(TERC):n.446_449dup	TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 39296	NC_000003.12:g.169764611C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1055188	NC_000003.12:g.169764612A>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 580828	NC_000003.12:g.169764617T>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 436977	NR_001566.3(TERC):n.443C>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 1427280	NC_000003.12:g.169764621C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1416083	NC_000003.12:g.169764622C>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1018483	NC_000003.12:g.169764622C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1695963	NC_000003.12:g.169764627C>A	TERC	Single nucleotide variant	Pulmonary fibrosis	GLikely risk allele
Select item 1348947	NC_000003.12:g.169764627C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2112056	NC_000003.12:g.169764628C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1695965	NC_000003.12:g.169764628C>G	TERC	Single nucleotide variant	Pulmonary fibrosis	GLikely risk allele
Select item 2849250	NC_000003.12:g.169764629T>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1451043	NC_000003.12:g.169764629T>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1044504	NR_001566.3(TERC):n.429dup	TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 846102	NC_000003.12:g.169764629T>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1430867	NC_000003.12:g.169764630G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 936172	NC_000003.12:g.169764631G>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 859663	NC_000003.12:g.169764634G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1462218	NC_000003.12:g.169764637C>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 966538	NC_000003.12:g.169764638G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 3344026	NR_001566.3(TERC):n.420G>A	TERC	Single nucleotide variant (non-coding transcript variant)	TERC-related disorder	GUncertain significance
Select item 410644	NC_000003.12:g.169764646G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 39295	NC_000003.12:g.169764651G>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 964618	NC_000003.12:g.169764652G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1503470	NC_000003.12:g.169764653G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 446379	NR_001566.1(TERC):n.407_408delinsAA	TERC	Indel	Dyskeratosis congenita, autosomal dominant 1 +1 more	GPathogenic/Likely pathogenic
Select item 7320	NR_001566.3(TERC):n.408C>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GPathogenic
Select item 1429553	NC_000003.12:g.169764656T>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1409182	NC_000003.12:g.169764657C>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1498783	NC_000003.12:g.169764660G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 3363972	NR_001566.3(TERC):n.392CG[3]	TERC	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 1517066	NC_000003.12:g.169764664C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1018571	NC_000003.12:g.169764664C>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 849306	NC_000003.12:g.169764665G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2803671	NC_000003.12:g.169764666C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 665301	NC_000003.12:g.169764666C>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2749645	NC_000003.12:g.169764668C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1361693	NC_000003.12:g.169764669G>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 39294	NR_001566.3(TERC):n.389_390delCC	TERC	Deletion	Aplastic anemia	GPathogenic
Select item 570713	NR_001566.3(TERC):n.391C>T	TERC	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 849277	NC_000003.12:g.169764671G>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1996529	NC_000003.12:g.169764672G>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 572406	NC_000003.12:g.169764672G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2755427	NC_000003.12:g.169764676C>G	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2444891	NR_001566.3(TERC):n.385G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1039209	NC_000003.12:g.169764677G>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1037483	NC_000003.12:g.169764679T>C	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 265266	NR_001566.3(TERC):n.381G>A	TERC	Single nucleotide variant	not provided	GLikely pathogenic
Select item 2055310	NC_000003.12:g.169764681C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2807202	NC_000003.12:g.169764686C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1010848	NC_000003.12:g.169764688C>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2744012	NC_000003.12:g.169764690T>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 3021817	NC_000003.12:g.169764694G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 581268	NC_000003.12:g.169764695C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2806781	NC_000003.12:g.169764696G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1338286	NR_001566.3(TERC):n.349_357delTTCAGGCCT	LOC110806306, TERC	Deletion	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2714419	NC_000003.12:g.169764697G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 639725	NC_000003.12:g.169764698C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 465769	NC_000003.12:g.169764699C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2171755	NC_000003.12:g.169764700_169764702delinsCTT	LOC110806306, TERC	Indel	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 939334	NC_000003.12:g.169764701G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 465768	NC_000003.12:g.169764701G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 242270	NC_000003.12:g.169764701G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1045345	NC_000003.12:g.169764702A>G	TERC, LOC110806306	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1429197	NC_000003.12:g.169764704A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1386271	NC_000003.12:g.169764704A>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2825576	NC_000003.12:g.169764706G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2059346	NC_000003.12:g.169764708C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1361014	NC_000003.12:g.169764710G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 580259	NC_000003.12:g.169764710G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2771703	NC_000003.12:g.169764712A>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1463890	NC_000003.12:g.169764712A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 639928	NR_001566.3(TERC):n.335_340GGGCGA[3]	LOC110806306, TERC	Microsatellite	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 952099	NC_000003.12:g.169764715T>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2049539	NC_000003.12:g.169764716C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 465767	NC_000003.12:g.169764717G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 860094	NR_001566.3(TERC):n.341G>A	LOC110806306, TERC	Single nucleotide variant	not specified +1 more	GUncertain significance

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