TMEM107[gene] - 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	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +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	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Dyskeratosis congenita +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	TMEM107, BORCS6 +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	NM_183065.4(TMEM107):c.545_826del	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)	TMEM107-related disorder +1 more	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	NM_183065.4(TMEM107):c.*760G>A	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)	Leukoencephalopathy with calcifications and cysts +1 more	GPathogenic/Likely pathogenic
Select item 929264	NM_183065.4(TMEM107):c.*755C>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 265783	NM_183065.4(TMEM107):c.*755C>T	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM107-related disorder +1 more	GConflicting classifications of pathogenicity
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)	TMEM107-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2578783	NM_183065.4(TMEM107):c.*748A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1957522	NM_183065.4(TMEM107):c.*748A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2672688	NM_183065.4(TMEM107):c.*746dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929266	NM_183065.4(TMEM107):c.*745C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929265	NM_183065.4(TMEM107):c.*745C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 2111982	NM_183065.4(TMEM107):c.743_744insCCCTGATTGCTCCTA	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929267	NM_183065.4(TMEM107):c.*744T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1921841	NM_183065.4(TMEM107):c.742_743inv	SNORD118, TMEM107	Inversion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1900385	NM_183065.4(TMEM107):c.*743G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1168310	NM_183065.4(TMEM107):c.*743G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM107-related disorder +1 more	GBenign
Select item 929268	NM_183065.4(TMEM107):c.*741C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 929269	NM_183065.4(TMEM107):c.*740C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1467109	NM_183065.4(TMEM107):c.*738C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1920411	NM_183065.4(TMEM107):c.*737G>A	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1910546	NM_183065.4(TMEM107):c.*737G>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1896340	NM_183065.4(TMEM107):c.*737G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1476725	NM_183065.4(TMEM107):c.*734A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1356857	NM_183065.4(TMEM107):c.*733G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 973324	NM_183065.4(TMEM107):c.*733G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 1347500	NM_183065.4(TMEM107):c.*731C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1599029	NM_183065.4(TMEM107):c.*730C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1475704	NM_183065.4(TMEM107):c.*730C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1510987	NM_183065.4(TMEM107):c.*729C>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2102343	NM_183065.4(TMEM107):c.*728A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1900562	NM_183065.4(TMEM107):c.*728A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1921340	NM_183065.4(TMEM107):c.*727C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 808223	NM_183065.4(TMEM107):c.*727C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1493318	NM_183065.4(TMEM107):c.*726A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2126479	NM_183065.4(TMEM107):c.714_725del	SNORD118, TMEM107	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1673405	NM_183065.4(TMEM107):c.*725A>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1641445	NM_183065.4(TMEM107):c.*724C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1990421	NM_183065.4(TMEM107):c.*723G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353067	NM_183065.4(TMEM107):c.*723G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1899163	NM_183065.4(TMEM107):c.*721T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1672119	NM_183065.4(TMEM107):c.*720C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1588293	NM_183065.4(TMEM107):c.*720C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1474769	NM_183065.4(TMEM107):c.719_720delinsTT	SNORD118, TMEM107	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1991789	NM_183065.4(TMEM107):c.718_719delinsAT	TMEM107, SNORD118	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1580869	NM_183065.4(TMEM107):c.*719A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM107-related disorder +1 more	GBenign/Likely benign
Select item 1166962	NM_183065.4(TMEM107):c.*719A>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 929270	NM_183065.4(TMEM107):c.*718G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 1908936	NM_183065.4(TMEM107):c.*717G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929271	NM_183065.4(TMEM107):c.*717G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1897988	NM_183065.4(TMEM107):c.*716A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353873	NM_183065.4(TMEM107):c.*715C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1906488	NM_183065.4(TMEM107):c.*714T>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929272	NM_183065.4(TMEM107):c.*714T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1505111	NM_183065.4(TMEM107):c.*712A>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1927692	NM_183065.4(TMEM107):c.*711T>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1907015	NM_183065.4(TMEM107):c.*710G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1896784	NM_183065.4(TMEM107):c.*709C>T	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1898519	NM_183065.4(TMEM107):c.*708G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1632224	NM_183065.4(TMEM107):c.*705dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1632208	NM_183065.4(TMEM107):c.*706C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1041602	NM_183065.4(TMEM107):c.*706C>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1523312	NM_183065.4(TMEM107):c.*704C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1414289	NM_183065.4(TMEM107):c.*704C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1911128	NM_183065.4(TMEM107):c.*702G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1475356	NM_183065.4(TMEM107):c.*701C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2053341	NM_183065.4(TMEM107):c.*698T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1947381	NM_183065.4(TMEM107):c.*696dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2041707	NM_183065.4(TMEM107):c.*696A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1946852	NM_183065.4(TMEM107):c.*696A>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 929273	NM_183065.4(TMEM107):c.*696A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 929275	NM_183065.4(TMEM107):c.*695G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 929274	NM_183065.4(TMEM107):c.*695G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy with calcifications and cysts	GPathogenic
Select item 1484048	NM_183065.4(TMEM107):c.*694T>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2003789	NM_183065.4(TMEM107):c.686_693del	SNORD118, TMEM107	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1462833	NM_183065.4(TMEM107):c.*692C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1485418	NM_183065.4(TMEM107):c.*691A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929277	NM_183065.4(TMEM107):c.*689A>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 929276	NM_183065.4(TMEM107):c.*689A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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