26169[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	BORCS6, CHD3 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 892092	NM_025099.6(CTC1):c.*3255G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 325985	NM_025099.6(CTC1):c.*3231A>G	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GBenign
Select item 210793	NM_025099.6(CTC1):c.*3198G>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 325986	NM_025099.6(CTC1):c.*3186G>A	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892093	NM_025099.6(CTC1):c.*3079C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888636	NM_025099.6(CTC1):c.*2926G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888637	NM_025099.6(CTC1):c.*2848A>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 888638	NM_025099.6(CTC1):c.*2842G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325987	NM_025099.6(CTC1):c.*2784G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888639	NM_025099.6(CTC1):c.*2725T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325988	NM_025099.6(CTC1):c.*2685C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888640	NM_025099.6(CTC1):c.*2536C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888641	NM_025099.6(CTC1):c.*2530G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890337	NM_025099.6(CTC1):c.*2498G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890338	NM_025099.6(CTC1):c.*2425T>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325989	NM_025099.6(CTC1):c.*2364AT[3]	CTC1	Microsatellite (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 325990	NM_025099.6(CTC1):c.*2353A>G	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325991	NM_025099.6(CTC1):c.*2338T>C	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GBenign
Select item 890339	NM_025099.6(CTC1):c.*2337G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325992	NM_025099.6(CTC1):c.*2296T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890340	NM_025099.6(CTC1):c.*2242G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890341	NM_025099.6(CTC1):c.*2146G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325993	NM_025099.6(CTC1):c.*2115C>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 325994	NM_025099.6(CTC1):c.*2106G>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 890904	NM_025099.6(CTC1):c.*2090G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325995	NM_025099.6(CTC1):c.*2087A>G	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GBenign
Select item 890905	NM_025099.6(CTC1):c.*2070G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325996	NM_025099.6(CTC1):c.*2013G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325997	NM_025099.6(CTC1):c.*2007A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890906	NM_025099.6(CTC1):c.*2006T>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 325998	NM_025099.6(CTC1):c.*1997dup	CTC1	Duplication (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 892136	NM_025099.6(CTC1):c.*1994A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892137	NM_025099.6(CTC1):c.*1964G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 325999	NM_025099.6(CTC1):c.*1960C>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326000	NM_025099.6(CTC1):c.1939_1940insT	CTC1, TRT-AGT1-2	Insertion (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 326001	NM_025099.6(CTC1):c.*1939G>A	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326002	NM_025099.6(CTC1):c.*1936A>G	CTC1, TRT-AGT1-2	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892138	NM_025099.6(CTC1):c.*1933C>T	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326003	NM_025099.6(CTC1):c.*1930A>G	TRT-AGT1-2, CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892139	NM_025099.6(CTC1):c.*1913A>G	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888699	NM_025099.6(CTC1):c.*1900C>A	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888700	NM_025099.6(CTC1):c.*1868C>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888701	NM_025099.6(CTC1):c.*1867G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326004	NM_025099.6(CTC1):c.*1861A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326005	NM_025099.6(CTC1):c.*1857C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326006	NM_025099.6(CTC1):c.*1856C>T	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326007	NM_025099.6(CTC1):c.*1853G>A	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326008	NM_025099.6(CTC1):c.*1852G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326010	NM_025099.6(CTC1):c.*1844G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326009	NM_025099.6(CTC1):c.*1844G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890401	NM_025099.6(CTC1):c.*1807G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326011	NM_025099.6(CTC1):c.*1807G>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326012	NM_025099.6(CTC1):c.*1792G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890402	NM_025099.6(CTC1):c.*1711A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890403	NM_025099.6(CTC1):c.*1668G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326013	NM_025099.6(CTC1):c.*1663G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 890962	NM_025099.6(CTC1):c.*1630G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890963	NM_025099.6(CTC1):c.*1603T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326014	NM_025099.6(CTC1):c.1599_1603delinsTGGAGAGAAATA	CTC1	Indel (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 890964	NM_025099.6(CTC1):c.*1600T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326015	NM_025099.6(CTC1):c.1594_1597del	CTC1	Deletion (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 890965	NM_025099.6(CTC1):c.*1578T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326016	NM_025099.6(CTC1):c.*1573A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 326017	NM_025099.6(CTC1):c.*1569C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326018	NM_025099.6(CTC1):c.*1565A>G	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890966	NM_025099.6(CTC1):c.*1553C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326019	NM_025099.6(CTC1):c.*1542C>G	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326020	NM_025099.6(CTC1):c.*1540C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326021	NM_025099.6(CTC1):c.*1534G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892197	NM_025099.6(CTC1):c.*1531T>C	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892198	NM_025099.6(CTC1):c.*1517G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326022	NM_025099.6(CTC1):c.*1495G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326023	NM_025099.6(CTC1):c.*1486C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 892199	NM_025099.6(CTC1):c.*1479C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326024	NM_025099.6(CTC1):c.*1478C>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888764	NM_025099.6(CTC1):c.*1477G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 888763	NM_025099.6(CTC1):c.*1477G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 326025	NM_025099.6(CTC1):c.*1477G>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 326026	NM_025099.6(CTC1):c.*1475A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326028	NM_025099.6(CTC1):c.*1474G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326027	NM_025099.6(CTC1):c.*1474G>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 326029	NM_025099.6(CTC1):c.*1473C>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888765	NM_025099.6(CTC1):c.*1450G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GBenign
Select item 326030	NM_025099.6(CTC1):c.*1438C>G	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890470	NM_025099.6(CTC1):c.*1420A>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890471	NM_025099.6(CTC1):c.*1410A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890472	NM_025099.6(CTC1):c.*1369A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 890473	NM_025099.6(CTC1):c.*1308T>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326031	NM_025099.6(CTC1):c.*1286A>G	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326032	NM_025099.6(CTC1):c.*1205T>G	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 326033	NM_025099.6(CTC1):c.*1204T>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326034	NM_025099.6(CTC1):c.*1201T>C	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance

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