ClinVar for Gene (Select 84342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343454	NM_032382.5(COG8):c.1013T>C (p.Ile338Thr)	COG8 (I338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3305443	NM_022341.2(PDF):c.155T>C (p.Leu52Pro)	COG8, PDF (L52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305441	NM_022341.2(PDF):c.280C>T (p.Arg94Trp)	COG8, PDF (R94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305440	NM_022341.2(PDF):c.701C>T (p.Thr234Ile)	COG8, PDF (T570I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3305439	NM_022341.2(PDF):c.443T>G (p.Phe148Cys)	COG8, PDF (F148C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305438	NM_022341.2(PDF):c.688A>C (p.Ser230Arg)	COG8, PDF (S566R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3305437	NM_022341.2(PDF):c.371C>T (p.Ala124Val)	COG8, PDF (A124V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268493	NM_032382.5(COG8):c.1832G>T (p.Gly611Val)	COG8, LOC130059304 (G658V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268492	NM_032382.5(COG8):c.1822C>A (p.Pro608Thr)	COG8, LOC130059304 (P608T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268491	NM_032382.5(COG8):c.1759C>T (p.Arg587Cys)	COG8, LOC130059304 (R587W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257228	NM_032382.5(COG8):c.1065C>G (p.Ser355=)	COG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3250764	NM_032382.5(COG8):c.146A>G (p.Tyr49Cys)	COG8 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3210818	NM_022341.2(PDF):c.616G>C (p.Gly206Arg)	COG8, PDF (G601R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210817	NM_022341.2(PDF):c.53C>T (p.Pro18Leu)	COG8, PDF (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210816	NM_022341.2(PDF):c.407C>T (p.Pro136Leu)	COG8, PDF (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210815	NM_022341.2(PDF):c.22C>G (p.Leu8Val)	COG8, PDF (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210814	NM_022341.2(PDF):c.227G>A (p.Arg76His)	COG8, PDF (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210813	NM_022341.2(PDF):c.143A>G (p.Tyr48Cys)	COG8, PDF (Y48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147143	NM_032382.5(COG8):c.752G>A (p.Arg251Gln)	COG8 (R251Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147142	NM_032382.5(COG8):c.247G>A (p.Ala83Thr)	COG8, LOC130059306 (A83T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147141	NM_032382.5(COG8):c.1700A>G (p.Asp567Gly)	COG8, LOC130059304 (D580G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147140	NM_032382.5(COG8):c.1442G>A (p.Arg481His)	COG8 (R481H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147139	NM_032382.5(COG8):c.1265C>T (p.Thr422Met)	COG8 (T422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147138	NM_032382.5(COG8):c.1070G>C (p.Ser357Thr)	COG8 (S357T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3024029	NM_032382.5(COG8):c.66G>A (p.Glu22=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2999908	NM_032382.5(COG8):c.193C>A (p.Pro65Thr)	COG8 (P65T)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2914898	NM_032382.5(COG8):c.133G>C (p.Asp45His)	COG8 (D45H)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2894092	NM_032382.5(COG8):c.1794A>C (p.Gly598=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2878169	NM_032382.5(COG8):c.1095T>C (p.Gly365=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2816392	NM_032382.5(COG8):c.1551T>G (p.Leu517=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2767500	NM_032382.5(COG8):c.132C>G (p.Pro44=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2726841	NM_032382.5(COG8):c.1583-6G>T	COG8 (G539V)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2683372	NM_032382.5(COG8):c.726G>A (p.Glu242=)	COG8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2646672	NM_022341.2(PDF):c.492C>T (p.Arg164=)	COG8, PDF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2628993	NM_032382.5(COG8):c.547C>T (p.Arg183Ter)	COG8 (R183*)	Single nucleotide variant (nonsense)	COG8-related disorder	GLikely pathogenic
Select item 2628825	NM_032382.5(COG8):c.1798C>T (p.Arg600Ter)	COG8, LOC130059304 (R600* +2 more)	Single nucleotide variant (nonsense +1 more)	COG8-related disorder	GUncertain significance
Select item 2614123	NM_032382.5(COG8):c.1523C>T (p.Pro508Leu)	COG8 (P508L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613200	NM_032382.5(COG8):c.1117C>T (p.Arg373Trp)	COG8 (R373W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608355	NM_022341.2(PDF):c.583C>T (p.Pro195Ser)	COG8, PDF (P195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607896	NM_032382.5(COG8):c.280G>A (p.Ala94Thr)	LOC130059305, COG8 (A94T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600037	NM_032382.5(COG8):c.1702C>A (p.Gln568Lys)	COG8, LOC130059304 (Q568K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2556638	NM_022341.2(PDF):c.684G>A (p.Met228Ile)	COG8, PDF (M228I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553258	NM_022341.2(PDF):c.122G>A (p.Gly41Asp)	COG8, PDF (G41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551578	NM_022341.2(PDF):c.265G>A (p.Gly89Arg)	COG8, PDF (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544489	NM_032382.5(COG8):c.152G>A (p.Arg51Gln)	COG8 (R51Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543780	NM_022341.2(PDF):c.184C>G (p.Pro62Ala)	COG8, PDF (P62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508063	NM_032382.5(COG8):c.1538G>C (p.Cys513Ser)	COG8 (C513S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2504275	NM_032382.5(COG8):c.1396del (p.Glu466fs)	COG8 (E466fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2484018	NM_032382.5(COG8):c.83C>T (p.Ala28Val)	COG8 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440192	NM_032382.5(COG8):c.980T>G (p.Leu327Arg)	COG8 (L327R)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2440191	NM_032382.5(COG8):c.766C>T (p.Arg256Trp)	COG8 (R256W)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2402259	NM_032382.5(COG8):c.788C>T (p.Pro263Leu)	COG8 (P263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401256	NM_022341.2(PDF):c.35C>G (p.Pro12Arg)	COG8, PDF (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389433	NM_032382.5(COG8):c.1552T>C (p.Phe518Leu)	COG8 (F518L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384601	NM_032382.5(COG8):c.1117C>G (p.Arg373Gly)	COG8 (R373G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338754	NM_022341.2(PDF):c.440C>T (p.Pro147Leu)	COG8, PDF (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320437	NM_022341.2(PDF):c.217C>T (p.Pro73Ser)	COG8, PDF (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309923	NM_022341.2(PDF):c.287C>T (p.Thr96Met)	COG8, PDF (T96M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297401	NM_022341.2(PDF):c.16G>A (p.Gly6Ser)	COG8, PDF (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288766	NM_022341.2(PDF):c.19G>T (p.Ala7Ser)	COG8, PDF (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286479	NM_032382.5(COG8):c.26C>T (p.Ser9Leu)	COG8 (S9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278821	NM_032382.5(COG8):c.167C>T (p.Ser56Leu)	COG8 (S56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272264	NM_022341.2(PDF):c.53C>G (p.Pro18Arg)	COG8, PDF (P18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262201	NM_032382.5(COG8):c.1349G>A (p.Arg450His)	COG8 (R450H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253879	NM_032382.5(COG8):c.869G>A (p.Arg290His)	COG8 (R290H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253685	NM_022341.2(PDF):c.344A>G (p.Gln115Arg)	COG8, PDF (Q115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253603	NM_022341.2(PDF):c.28C>G (p.Leu10Val)	COG8, PDF (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251050	NM_032382.5(COG8):c.790A>G (p.Asn264Asp)	COG8 (N264D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235795	NM_022341.2(PDF):c.587A>T (p.Asn196Ile)	COG8, PDF (N591I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231385	NM_032382.5(COG8):c.1778C>G (p.Pro593Arg)	COG8, LOC130059304 (P606R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231384	NM_032382.5(COG8):c.1589C>G (p.Pro530Arg)	COG8 (P577R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2194054	NM_032382.5(COG8):c.1583-6G>A	COG8 (G539E)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2173532	NM_032382.5(COG8):c.252C>T (p.Phe84=)	COG8, LOC130059306	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2153231	NM_032382.5(COG8):c.540C>T (p.Tyr180=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2121903	NM_032382.5(COG8):c.1072C>A (p.Arg358=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2111857	NM_032382.5(COG8):c.507T>G (p.Ser169Arg)	COG8 (S169R)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2082443	NM_032382.5(COG8):c.357C>G (p.Pro119=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2058233	NM_032382.5(COG8):c.598G>C (p.Glu200Gln)	COG8 (E200Q)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2048858	NM_032382.5(COG8):c.810T>C (p.His270=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2037811	NM_032382.5(COG8):c.164G>C (p.Gly55Ala)	COG8 (G55A)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1979852	NM_032382.5(COG8):c.1686T>C (p.Leu562=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1975270	NM_032382.5(COG8):c.378-11A>G	COG8	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1971767	NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)	COG8, LOC130059304 (R613Q +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1969379	NM_032382.5(COG8):c.474T>G (p.Ile158Met)	COG8 (I158M)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1964711	NM_032382.5(COG8):c.240C>T (p.Arg80=)	COG8, LOC130059306	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1913192	NM_032382.5(COG8):c.645A>G (p.Gln215=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1909704	NM_032382.5(COG8):c.192G>T (p.Glu64Asp)	COG8 (E64D)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1806172	NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)	COG8 (I548T +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1806165	NM_032382.5(COG8):c.888_890del (p.Glu296del)	COG8 (E296del)	Deletion (inframe_deletion)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1801207	NM_032382.5(COG8):c.1582+1G>A	COG8 (G528D)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1800936	NM_032382.5(COG8):c.304C>T (p.Arg102Cys)	COG8, LOC130059305 (R102C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1659781	NM_032382.5(COG8):c.147C>T (p.Tyr49=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1640392	NM_032382.5(COG8):c.558G>A (p.Arg186=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign

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