ClinVar for MedGen (Select 1645250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021817	NC_000003.12:g.169764694G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 3015793	NC_000003.12:g.169765034_169765035insG	LOC110806306, TERC	Insertion	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 3014205	NR_001566.3(TERC):n.327_328TC[2]	LOC110806306, TERC	Microsatellite	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2981121	NC_000003.12:g.169764785A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2915715	NC_000003.12:g.169764733del	LOC110806306, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2913623	NC_000003.12:g.169764840C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2912261	NC_000003.12:g.169764780T>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2902363	NC_000003.12:g.169765030C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2861072	NC_000003.12:g.169764987G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2860949	NC_000003.12:g.169764800A>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2851362	NC_000003.12:g.169765059C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2849250	NC_000003.12:g.169764629T>A	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2847940	NC_000003.12:g.169764777G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2846098	NC_000003.12:g.169765006T>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2840076	NC_000003.12:g.169764999T>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2835501	NC_000003.12:g.169764775G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2829379	NC_000003.12:g.169765016A>C	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 2823729	NC_000003.12:g.169765057A>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2822064	NC_000003.12:g.169765036C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2818331	NR_001566.3(TERC):n.219delG	LOC110806306, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2813316	NC_000003.12:g.169764977C>T	LOC110806306, 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 2806781	NC_000003.12:g.169764696G>A	LOC110806306, 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 2800272	NC_000003.12:g.169764832G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2787205	NR_001566.3(TERC):n.232dup	LOC110806306, TERC	Duplication	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 2764141	NR_001566.3(TERC):n.450dup	TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2761109	NC_000003.12:g.169764983C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2756853	NC_000003.12:g.169764762G>A	LOC110806306, 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 2749645	NC_000003.12:g.169764668C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2744757	NC_000003.12:g.169764956A>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2744221	NC_000003.12:g.169764814G>T	LOC110806306, 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 2737080	NC_000003.12:g.169764765G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2734587	NC_000003.12:g.169764953G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2734586	NC_000003.12:g.169764817G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2734585	NC_000003.12:g.169764774G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2733764	NC_000003.12:g.169764976G>A	TERC, LOC110806306	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2733230	NC_000003.12:g.169764843G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2729669	NC_000003.12:g.169764940C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2716777	NC_000003.12:g.169764884A>G	TERC, LOC110806306	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2714419	NC_000003.12:g.169764697G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2711150	NC_000003.12:g.169764758C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2709303	NC_000003.12:g.169764756C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2683780	NR_001566.3(TERC):n.61A>G	LOC110806306, TERC	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 2629992	NR_001566.3(TERC):n.73_109del37	LOC110806306, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1 +1 more	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 2427793	NC_000003.11:g.(?_169482398)_(169482848_?)dup	TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2420879	NC_000003.12:g.169764817G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2199209	NC_000003.12:g.169764755A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2194920	NC_000003.12:g.169764729G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2194681	NC_000003.12:g.169764920G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2188564	NC_000003.12:g.169765041A>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2182604	NC_000003.12:g.169764971G>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 2157288	NC_000003.12:g.169765042G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2154846	NC_000003.12:g.169764955G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2151943	NC_000003.12:g.169764851T>G	TERC, LOC110806306	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2147463	NC_000003.12:g.169764871G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2146368	NC_000003.12:g.169765035C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2146291	NC_000003.12:g.169764898C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2139786	NC_000003.12:g.169765021A>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2132958	NC_000003.12:g.169764985C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2131542	NC_000003.12:g.169764726C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2130922	NC_000003.12:g.169764734A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2126177	NR_001566.3(TERC):n.171dup	LOC110806306, TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2125942	NC_000003.12:g.169764782C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2120824	NC_000003.12:g.169764808C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2120146	NC_000003.12:g.169764906A>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2117745	NC_000003.12:g.169764989G>A	LOC110806306, 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 2105746	NC_000003.12:g.169764945G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2101604	NC_000003.12:g.169765054G>A	TERC, LOC110806306	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2099633	NC_000003.12:g.169765018A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2098214	NR_001566.3(TERC):n.113_114delTT	LOC110806306, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 2085050	NC_000003.12:g.169764869G>C	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2081070	NC_000003.12:g.169765035C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2077265	NC_000003.12:g.169765017C>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2067519	NC_000003.12:g.169764912G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2059760	NC_000003.12:g.169764999T>C	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 2055310	NC_000003.12:g.169764681C>T	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 2043477	NC_000003.12:g.169764978A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2034722	NC_000003.12:g.169764962A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2029473	NC_000003.12:g.169765030C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2024952	NC_000003.12:g.169765040C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2022752	NC_000003.12:g.169764862G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2020151	NC_000003.12:g.169764786G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 2001725	NC_000003.12:g.169764996C>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1996546	NC_000003.12:g.169764833C>A	LOC110806306, 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 1996056	NC_000003.12:g.169764850G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1977073	NC_000003.12:g.169764734A>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1950225	NC_000003.12:g.169764877A>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1948290	NR_001566.3(TERC):n.38dup	LOC110806306, TERC	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1940510	NC_000003.12:g.169764974G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance

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