28814[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2378024	NM_000591.4(CD14):c.1075G>A (p.Val359Met)	CD14, TMCO6 (V359M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140290	NM_000591.4(CD14):c.1025G>A (p.Gly342Asp)	CD14, TMCO6 (G342D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3049259	NM_000591.4(CD14):c.1021G>A (p.Glu341Lys)	CD14, TMCO6 (E341K)	Single nucleotide variant (missense variant)	CD14-related disorder	GLikely benign
Select item 3140289	NM_000591.4(CD14):c.1020C>A (p.His340Gln)	CD14, TMCO6 (H340Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222535	NM_000591.4(CD14):c.1018C>T (p.His340Tyr)	CD14, TMCO6 (H340Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408191	NM_000591.4(CD14):c.923G>A (p.Arg308Lys)	CD14, TMCO6 (R308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520194	NM_000591.4(CD14):c.921C>A (p.Asn307Lys)	CD14, TMCO6 (N307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140293	NM_000591.4(CD14):c.826A>G (p.Ser276Gly)	CD14, TMCO6 (S276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264718	NM_000591.4(CD14):c.805G>A (p.Ala269Thr)	CD14, TMCO6 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261322	NM_000591.4(CD14):c.800C>T (p.Pro267Leu)	CD14, TMCO6 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325366	NM_000591.4(CD14):c.752C>G (p.Pro251Arg)	CD14, TMCO6 (P251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715333	NM_000591.4(CD14):c.702G>A (p.Met234Ile)	CD14, TMCO6 (M234I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396567	NM_000591.4(CD14):c.697G>C (p.Gly233Arg)	CD14, TMCO6 (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283812	NM_000591.4(CD14):c.560G>C (p.Cys187Ser)	CD14, TMCO6 (C187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140292	NM_000591.4(CD14):c.455T>A (p.Val152Glu)	CD14, TMCO6 (V152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779243	NM_000591.4(CD14):c.438C>T (p.Ser146=)	CD14, TMCO6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2348860	NM_000591.4(CD14):c.434C>A (p.Ser145Tyr)	CD14, TMCO6 (S145Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281212	NM_000591.4(CD14):c.428C>G (p.Ala143Gly)	CD14, TMCO6 (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286363	NM_000591.4(CD14):c.381G>T (p.Lys127Asn)	CD14, TMCO6 (K127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140291	NM_000591.4(CD14):c.340G>A (p.Ala114Thr)	CD14, TMCO6 (A114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394853	NM_000591.4(CD14):c.332G>A (p.Arg111His)	CD14, TMCO6 (R111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539662	NM_000591.4(CD14):c.292G>T (p.Ala98Ser)	CD14, TMCO6 (A98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212753	NM_000591.4(CD14):c.265C>T (p.Leu89Phe)	CD14, TMCO6 (L89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478031	NM_000591.4(CD14):c.206T>G (p.Phe69Cys)	CD14, TMCO6 (F69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616637	NM_018502.5(TMCO6):c.7A>G (p.Ser3Gly)	TMCO6 (S3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655740	NM_018502.5(TMCO6):c.165G>A (p.Glu55=)	TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2230866	NM_018502.5(TMCO6):c.166G>A (p.Gly56Arg)	TMCO6 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540159	NM_018502.5(TMCO6):c.196G>A (p.Glu66Lys)	TMCO6 (E66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458355	NM_018502.5(TMCO6):c.214C>T (p.Arg72Trp)	TMCO6 (R72W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178335	NM_018502.5(TMCO6):c.227G>A (p.Arg76Gln)	TMCO6 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240988	NM_018502.5(TMCO6):c.250G>C (p.Glu84Gln)	TMCO6 (E84Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178336	NM_018502.5(TMCO6):c.313C>T (p.Arg105Trp)	TMCO6 (R105W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178337	NM_018502.5(TMCO6):c.322G>A (p.Gly108Ser)	TMCO6 (G108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410733	NM_018502.5(TMCO6):c.325A>G (p.Ser109Gly)	TMCO6 (S109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178338	NM_018502.5(TMCO6):c.388C>T (p.Arg130Trp)	TMCO6 (R130W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619958	NM_018502.5(TMCO6):c.409C>G (p.His137Asp)	TMCO6 (H137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332420	NM_018502.5(TMCO6):c.532G>A (p.Val178Met)	TMCO6 (V178M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178339	NM_018502.5(TMCO6):c.544G>A (p.Ala182Thr)	TMCO6 (A182T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178340	NM_018502.5(TMCO6):c.558G>C (p.Gln186His)	TMCO6 (Q186H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349184	NM_018502.5(TMCO6):c.610C>G (p.His204Asp)	TMCO6 (H204D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354140	NM_018502.5(TMCO6):c.645G>C (p.Leu215Phe)	TMCO6 (L215F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178341	NM_018502.5(TMCO6):c.710T>C (p.Leu237Pro)	TMCO6 (L237P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178342	NM_018502.5(TMCO6):c.838G>C (p.Gly280Arg)	TMCO6 (G40R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607977	NM_018502.5(TMCO6):c.1010G>A (p.Arg337His)	TMCO6 (R337H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326597	NM_018502.5(TMCO6):c.1117A>G (p.Ser373Gly)	TMCO6 (S133G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178332	NM_018502.5(TMCO6):c.1186G>A (p.Val396Met)	TMCO6 (V156M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205362	NM_018502.5(TMCO6):c.1302T>G (p.Phe434Leu)	TMCO6 (F440L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178333	NM_018502.5(TMCO6):c.1315G>A (p.Val439Ile)	TMCO6 (V199I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178334	NM_018502.5(TMCO6):c.1429G>C (p.Ala477Pro)	TMCO6 (A237P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1499185	NM_002488.5(NDUFA2):c.294dup (p.Ala99fs)	NDUFA2, TMCO6 (A99fs)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3187070	NM_002488.5(NDUFA2):c.289G>A (p.Gly97Ser)	NDUFA2, TMCO6 (G97S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 214710	NM_002488.5(NDUFA2):c.280G>A (p.Val94Ile)	NDUFA2, TMCO6 (V94I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1660802	NM_002488.5(NDUFA2):c.279C>T (p.Asn93=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2008932	NM_002488.5(NDUFA2):c.273G>A (p.Leu91=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3056578	NM_002488.5(NDUFA2):c.267A>G (p.Arg89=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	NDUFA2-related disorder	GLikely benign
Select item 2232756	NM_002488.5(NDUFA2):c.253G>A (p.Asp85Asn)	NDUFA2, TMCO6 (D85N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1917840	NM_002488.5(NDUFA2):c.245T>G (p.Phe82Cys)	NDUFA2, TMCO6 (F82C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 138444	NM_002488.5(NDUFA2):c.231C>T (p.Val77=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 2956758	NM_002488.5(NDUFA2):c.225G>A (p.Thr75=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 214712	NM_002488.5(NDUFA2):c.225del (p.Asn76fs)	NDUFA2, TMCO6 (N76fs)	Deletion (3 prime UTR variant +2 more)	Cystic Leukoencephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 752905	NM_002488.5(NDUFA2):c.209-4T>C	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2190986	NM_002488.5(NDUFA2):c.209-14CT[4]	NDUFA2, TMCO6	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1910744	NM_002488.5(NDUFA2):c.209-15C>T	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2098824	NM_002488.5(NDUFA2):c.209-19C>T	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 509200	NM_002488.5(NDUFA2):c.209-28T>C	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3237476	NM_002488.5(NDUFA2):c.209-39G>A	NDUFA2, TMCO6 (V73M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 682691	NM_002488.5(NDUFA2):c.209-221C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248967	NM_002488.5(NDUFA2):c.209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GBenign
Select item 1175505	NM_002488.5(NDUFA2):c.209-333_209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GLikely benign
Select item 1213602	NM_002488.5(NDUFA2):c.209-355G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204085	NM_002488.5(NDUFA2):c.209-364C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669900	NM_002488.5(NDUFA2):c.208+314T>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291320	NM_002488.5(NDUFA2):c.208+18G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7515	NM_002488.5(NDUFA2):c.208+5G>A	TMCO6, NDUFA2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic
Select item 1617149	NM_002488.5(NDUFA2):c.201C>T (p.Ala67=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2434083	NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)	NDUFA2, TMCO6 (A67S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 373817	NM_002488.5(NDUFA2):c.199del (p.Ala67fs)	NDUFA2, TMCO6 (A67fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 351223	NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg)	NDUFA2, TMCO6 (K64R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2087152	NM_002488.5(NDUFA2):c.190A>G (p.Lys64Glu)	NDUFA2, TMCO6 (K64E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2609192	NM_002488.5(NDUFA2):c.179A>C (p.Asp60Ala)	NDUFA2, TMCO6 (D60A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 351224	NM_002488.5(NDUFA2):c.177C>T (p.Ser59=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2150348	NM_002488.5(NDUFA2):c.176C>T (p.Ser59Phe)	NDUFA2, TMCO6 (S59F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978071	NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala)	NDUFA2, TMCO6 (E57A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic
Select item 718911	NM_002488.5(NDUFA2):c.168C>T (p.Arg56=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947929	NM_002488.5(NDUFA2):c.155C>A (p.Pro52His)	NDUFA2, TMCO6 (P52H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740814	NM_002488.5(NDUFA2):c.150C>T (p.Asp50=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609191	NM_002488.5(NDUFA2):c.144T>A (p.Asn48Lys)	NDUFA2, TMCO6 (N48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2682906	NM_002488.5(NDUFA2):c.140C>T (p.Ala47Val)	NDUFA2, TMCO6 (A47V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 351225	NM_002488.5(NDUFA2):c.135G>A (p.Lys45=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214711	NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr)	NDUFA2, TMCO6 (K45T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cystic Leukoencephalopathy	GPathogenic
Select item 138446	NM_002488.5(NDUFA2):c.129G>A (p.Glu43=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 380652	NM_002488.5(NDUFA2):c.102-11C>G	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2065021	NM_002488.5(NDUFA2):c.102-17TC[2]	NDUFA2, TMCO6	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1965017	NM_002488.5(NDUFA2):c.102-14C>T	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205285	NM_002488.5(NDUFA2):c.101+27G>A	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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