Related gene-specific medical variations for Gene (Select 84314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041219	NM_183065.4(TMEM107):c.156-6C>G	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 3030434	NM_183065.4(TMEM107):c.666_667insT	SNORD118, TMEM107	Insertion (non-coding transcript variant +1 more)	TMEM107-related disorder	GLikely benign
Select item 2980269	NM_183065.4(TMEM107):c.*660G>C	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2837225	NM_183065.4(TMEM107):c.608_624dup	TMEM107, SNORD118	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2788015	NM_183065.4(TMEM107):c.45C>G (p.Leu15=)	TMEM107, LOC105371520	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712218	NM_183065.4(TMEM107):c.75A>G (p.Leu25=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672688	NM_183065.4(TMEM107):c.*746dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2647453	NM_183065.4(TMEM107):c.*481del	LOC130060223, TMEM107	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2637964	NM_183065.4(TMEM107):c.*686A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 2629343	NM_183065.4(TMEM107):c.*648C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM107-related disorder	GUncertain significance
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 2494420	NM_183065.4(TMEM107):c.119C>T (p.Thr40Met)	LOC105371520, TMEM107 (T40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330072	NM_183065.4(TMEM107):c.203T>G (p.Leu68Arg)	LOC105371520, LOC130060224 +1 more (L74R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299709	NM_183065.4(TMEM107):c.167C>T (p.Ala56Val)	LOC105371520, TMEM107 (A56V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274292	NM_183065.4(TMEM107):c.223G>A (p.Val75Ile)	LOC105371520, LOC130060224 +1 more (V75I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2181960	NM_183065.4(TMEM107):c.113C>T (p.Pro38Leu)	LOC105371520, TMEM107 (P38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154166	NM_183065.4(TMEM107):c.310C>A (p.Arg104Ser)	LOC105371520, TMEM107 (R110S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132127	NM_183065.4(TMEM107):c.256+12G>T	LOC105371520, TMEM107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132003	NM_183065.4(TMEM107):c.333G>A (p.Trp111Ter)	TMEM107, LOC105371520 (W111* +1 more)	Single nucleotide variant (splice donor variant +2 more)	not provided	GUncertain significance
Select item 2130952	NM_183065.4(TMEM107):c.*674G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2130258	NM_183065.4(TMEM107):c.85C>T (p.Arg29Trp)	LOC105371520, TMEM107 (R29W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130226	NM_183065.4(TMEM107):c.380C>T (p.Ala127Val)	LOC105371520, TMEM107 (A126V +4 more)	Single nucleotide variant (missense 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 2119011	NM_183065.4(TMEM107):c.176T>A (p.Val59Asp)	LOC105371520, TMEM107 (V65D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2099585	NM_183065.4(TMEM107):c.22del (p.Val8fs)	LOC105371520, TMEM107 (V8fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2092868	NM_183065.4(TMEM107):c.*640dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2069106	NM_183065.4(TMEM107):c.156-21C>T	LOC105371520, LOC130060225 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2062472	NM_183065.4(TMEM107):c.156-12T>C	LOC105371520, LOC130060225 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056782	NM_183065.4(TMEM107):c.343G>A (p.Val115Ile)	LOC105371520, TMEM107 (V121I +1 more)	Single nucleotide variant (missense 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 2052075	NM_183065.4(TMEM107):c.296T>G (p.Phe99Cys)	LOC105371520, TMEM107 (F105C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049440	NM_183065.4(TMEM107):c.117C>T (p.Leu39=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042666	NM_183065.4(TMEM107):c.159G>T (p.Leu53=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2039263	NM_183065.4(TMEM107):c.387C>T (p.Phe129=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2030030	NM_183065.4(TMEM107):c.*632T>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2022713	NM_183065.4(TMEM107):c.257-1del	LOC105371520, TMEM107	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
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 2001255	NM_183065.4(TMEM107):c.5G>A (p.Gly2Asp)	LOC105371520, TMEM107 (G2D)	Single nucleotide variant (missense 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 1991166	NM_183065.4(TMEM107):c.*658C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1990505	NM_183065.4(TMEM107):c.*627G>A	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1988123	NM_183065.4(TMEM107):c.*649T>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 1956690	NM_183065.4(TMEM107):c.*671GAT[1]	TMEM107, SNORD118	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1953489	NM_183065.4(TMEM107):c.21T>C (p.Leu7=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947381	NM_183065.4(TMEM107):c.*696dup	SNORD118, TMEM107	Duplication (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 1938479	NM_183065.4(TMEM107):c.*636dup	SNORD118, TMEM107	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1936823	NM_183065.4(TMEM107):c.353+13C>G	LOC105371520, TMEM107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935703	NM_183065.4(TMEM107):c.*617C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1933183	NM_183065.4(TMEM107):c.156-38A>G	LOC105371520, LOC130060225 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932406	NM_183065.4(TMEM107):c.*686A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript 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 1927065	NM_183065.4(TMEM107):c.*683T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1926292	NM_183065.4(TMEM107):c.*679G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1922719	NM_183065.4(TMEM107):c.*680A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1922335	NM_183065.4(TMEM107):c.*636T>G	SNORD118, TMEM107	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 1920451	NM_183065.4(TMEM107):c.36C>A (p.Phe12Leu)	LOC105371520, TMEM107 (F12L)	Single nucleotide variant (missense 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 1917661	NM_183065.4(TMEM107):c.*623G>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1917465	NM_183065.4(TMEM107):c.656_657delinsAA	SNORD118, TMEM107	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1916156	NM_183065.4(TMEM107):c.*629T>G	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 1911110	NM_183065.4(TMEM107):c.*683T>C	SNORD118, TMEM107	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 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 1908905	NM_183065.4(TMEM107):c.*644C>A	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1908788	NM_183065.4(TMEM107):c.218C>T (p.Ser73Leu)	TMEM107, LOC105371520 +1 more (S73L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907444	NM_183065.4(TMEM107):c.*663T>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 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 1904582	NM_183065.4(TMEM107):c.*628A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1904163	NM_183065.4(TMEM107):c.*662T>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1903754	NM_183065.4(TMEM107):c.*653G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1901663	NM_183065.4(TMEM107):c.*619T>C	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 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 1900197	NM_183065.4(TMEM107):c.*633C>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1899124	NM_183065.4(TMEM107):c.*682A>G	SNORD118, TMEM107	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 1898074	NM_183065.4(TMEM107):c.88-16T>C	LOC105371520, TMEM107	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1896296	NM_183065.4(TMEM107):c.*655G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1895761	NM_183065.4(TMEM107):c.*652G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1711429	NM_183065.4(TMEM107):c.*682A>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1701309	NM_183065.4(TMEM107):c.569_570delinsC	LOC130060223, SNORD118 +1 more	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1690321	NM_183065.4(TMEM107):c.*638C>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1676837	NM_183065.4(TMEM107):c.179C>T (p.Thr60Ile)	LOC105371520, TMEM107 (T60I +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome 16	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 1672119	NM_183065.4(TMEM107):c.*720C>G	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1671382	NM_183065.4(TMEM107):c.165C>T (p.Ala55=)	LOC105371520, TMEM107	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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