84314[geneid] - 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 2683898	GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1	BORCS6, LOC105371520 +7 more	Copy number loss	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 1278253	NM_183065.4(TMEM107):c.*898TGTT[1]	TMEM107	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1288637	NM_183065.4(TMEM107):c.*877A>G	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294573	NM_183065.4(TMEM107):c.*866G>A	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1225279	NM_183065.4(TMEM107):c.*854A>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 929299	NC_000017.11:g.8173378_8173659del	LOC130060223, SNORD118 +1 more	Deletion (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1245232	NM_183065.4(TMEM107):c.*780T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3030843	NM_183065.4(TMEM107):c.*777T>G	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3061539	NM_183065.4(TMEM107):c.*769C>T	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3031565	NM_183065.4(TMEM107):c.*766T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3030972	NM_183065.4(TMEM107):c.*764A>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3030614	NM_183065.4(TMEM107):c.*764A>G	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3029994	NM_183065.4(TMEM107):c.*763C>T	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 1694828	NC_000017.11:g.8173443C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 929263	NM_183065.4(TMEM107):c.*760G>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 265788	NM_183065.4(TMEM107):c.*759C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929264	NC_000017.11:g.8173448G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 265783	NM_183065.4(TMEM107):c.*755C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 1	GUncertain significance
Select item 3357284	NM_183065.4(TMEM107):c.*753T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3031501	NM_183065.4(TMEM107):c.*752T>C	TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 872120	NM_183065.4(TMEM107):c.*751C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578783	NR_033294.2(SNORD118):n.134A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1957522	NR_033294.2(SNORD118):n.134A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2672688	NR_033294.2(SNORD118):n.132dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929266	NR_033294.2(SNORD118):n.131C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929265	NR_033294.2(SNORD118):n.131C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2111982	NR_033294.2(SNORD118):n.129_130insCCCTGATTGCTCCTA	TMEM107, SNORD118	Insertion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929267	NR_033294.2(SNORD118):n.130T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1921841	NR_033294.2(SNORD118):n.128_129inv	SNORD118, TMEM107	Inversion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1900385	NR_033294.2(SNORD118):n.129G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1168310	NR_033294.2(SNORD118):n.129G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 929268	NR_033294.2(SNORD118):n.127C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929269	NR_033294.2(SNORD118):n.126C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1467109	NR_033294.2(SNORD118):n.124C>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1920411	NR_033294.2(SNORD118):n.123G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1910546	NR_033294.2(SNORD118):n.123G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1896340	NR_033294.2(SNORD118):n.123G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1476725	NR_033294.2(SNORD118):n.120A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1356857	NR_033294.2(SNORD118):n.119G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 973324	NR_033294.2(SNORD118):n.119G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 1347500	NR_033294.2(SNORD118):n.117C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1599029	NR_033294.2(SNORD118):n.116C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1475704	NR_033294.2(SNORD118):n.116C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1510987	NR_033294.2(SNORD118):n.115C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2102343	NR_033294.2(SNORD118):n.114A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1900562	NR_033294.2(SNORD118):n.114A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1921340	NR_033294.2(SNORD118):n.113C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 808223	NR_033294.2(SNORD118):n.113C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1493318	NR_033294.2(SNORD118):n.112A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2126479	NR_033294.2(SNORD118):n.100_111del	SNORD118, TMEM107	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1673405	NR_033294.2(SNORD118):n.111A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1641445	NR_033294.2(SNORD118):n.110C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1990421	NR_033294.2(SNORD118):n.109G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353067	NR_033294.2(SNORD118):n.109G>C	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1899163	NR_033294.2(SNORD118):n.107T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1672119	NR_033294.2(SNORD118):n.106C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1588293	NR_033294.2(SNORD118):n.106C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1474769	NR_033294.2(SNORD118):n.105_106delinsTT	SNORD118, TMEM107	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1991789	NR_033294.2(SNORD118):n.104_105delinsAT	SNORD118, TMEM107	Indel (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1580869	NR_033294.2(SNORD118):n.105A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1166962	NR_033294.2(SNORD118):n.105A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 929270	NR_033294.2(SNORD118):n.104G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1908936	NR_033294.2(SNORD118):n.103G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929271	NR_033294.2(SNORD118):n.103G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1897988	NR_033294.2(SNORD118):n.102A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353873	NR_033294.2(SNORD118):n.101C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1906488	NR_033294.2(SNORD118):n.100T>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929272	NR_033294.2(SNORD118):n.100T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1505111	NR_033294.2(SNORD118):n.98A>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1927692	NR_033294.2(SNORD118):n.97T>C	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1907015	NR_033294.2(SNORD118):n.96G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1896784	NR_033294.2(SNORD118):n.95C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1898519	NR_033294.2(SNORD118):n.94G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1632224	NR_033294.2(SNORD118):n.91dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1632208	NR_033294.2(SNORD118):n.92C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1041602	NR_033294.2(SNORD118):n.92C>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1523312	NR_033294.2(SNORD118):n.90C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1414289	NR_033294.2(SNORD118):n.90C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1911128	NR_033294.2(SNORD118):n.88G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1475356	NR_033294.2(SNORD118):n.87C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2053341	NR_033294.2(SNORD118):n.84T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1947381	NR_033294.2(SNORD118):n.82dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2041707	NR_033294.2(SNORD118):n.82A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1946852	NR_033294.2(SNORD118):n.82A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929273	NR_033294.2(SNORD118):n.82A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 929275	NR_033294.2(SNORD118):n.81G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929274	NR_033294.2(SNORD118):n.81G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1484048	NR_033294.2(SNORD118):n.80T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2003789	NR_033294.2(SNORD118):n.72_79del	SNORD118, TMEM107	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1462833	NR_033294.2(SNORD118):n.78C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1485418	NR_033294.2(SNORD118):n.77A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929277	NR_033294.2(SNORD118):n.75A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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