ClinVar for Gene (Select 5428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380324	NM_002693.3(POLG):c.61G>C (p.Ala21Pro)	POLG, POLGARF (A21P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380322	NM_002693.3(POLG):c.1481A>C (p.Glu494Ala)	POLG (E494A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380321	NM_002693.3(POLG):c.1594C>T (p.Pro532Ser)	POLG (P532S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380319	NM_002693.3(POLG):c.3133G>C (p.Ala1045Pro)	POLG (A1045P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377489	NM_002693.3(POLG):c.1787T>G (p.Met596Arg)	POLG (M596R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	GUncertain significance
Select item 3377428	NM_002693.3(POLG):c.3395G>A (p.Ser1132Asn)	POLG (S1132N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 3377427	NM_002693.3(POLG):c.38_60del (p.Thr13fs)	POLG, POLGARF (H31fs +1 more)	Deletion (frameshift variant)	Mitochondrial disease	GPathogenic
Select item 3377419	NM_002693.3(POLG):c.419G>T (p.Arg140Leu)	POLG, POLGARF (R140L)	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3376898	NM_002693.3(POLG):c.1384T>C (p.Ser462Pro)	POLG (S462P)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 3375190	NM_002693.3(POLG):c.2884G>C (p.Ala962Pro)	POLG (A962P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3371887	NM_002693.3(POLG):c.1928C>A (p.Ala643Asp)	POLG (A643D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370253	NM_002693.3(POLG):c.2293_2295del (p.Pro765del)	POLG (P765del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3369489	NM_002693.3(POLG):c.1510AAG[1] (p.Lys505del)	POLG (K505del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3369476	NM_002693.3(POLG):c.3640dup (p.Gln1214fs)	POLG (Q1214fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3368005	NM_002693.3(POLG):c.2506C>G (p.Leu836Val)	POLG (L836V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366784	NM_002693.3(POLG):c.1898A>G (p.Lys633Arg)	POLG (K633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366770	NM_002693.3(POLG):c.3585G>A (p.Met1195Ile)	POLG (M1195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365774	NM_002693.3(POLG):c.1291G>A (p.Gly431Ser)	POLG (G431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364739	NM_002693.3(POLG):c.-3A>T	POLG, POLGARF (N18I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360319	NM_002693.3(POLG):c.2396_2398del (p.Ser799del)	POLG (S799del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3358619	NM_002693.3(POLG):c.1250+3G>A	POLG	Single nucleotide variant (intron variant)	POLG-related disorder	GLikely benign
Select item 3350124	NM_002693.3(POLG):c.393C>G (p.Tyr131Ter)	POLG, POLGARF (R150G +1 more)	Single nucleotide variant (missense variant +1 more)	POLG-related disorder	GLikely pathogenic
Select item 3347560	NM_002693.3(POLG):c.626C>G (p.Pro209Arg)	POLGARF, POLG (P209R)	Single nucleotide variant (synonymous variant +1 more)	POLG-related disorder	GUncertain significance
Select item 3346268	NM_002693.3(POLG):c.2689_2690del (p.Trp897fs)	POLG (W897fs)	Microsatellite (frameshift variant)	POLG-related disorder	GLikely pathogenic
Select item 3345803	NM_002693.3(POLG):c.2659G>A (p.Val887Met)	POLG (V887M)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 3344070	NM_002693.3(POLG):c.38C>A (p.Thr13Asn)	POLG, POLGARF (H31Q +1 more)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 3343179	NM_002693.3(POLG):c.3660T>G (p.Ile1220Met)	FANCI, POLG (I1220M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342564	NM_002693.3(POLG):c.3481A>G (p.Arg1161Gly)	POLG (R1161G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340060	NM_002693.3(POLG):c.2741C>T (p.Thr914Ile)	POLG (T914I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339756	NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)	POLG (Q968E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339730	NM_002693.3(POLG):c.3155G>C (p.Gly1052Ala)	POLG (G1052A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339606	NM_002693.3(POLG):c.1684C>G (p.Arg562Gly)	POLG (R562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339338	NM_002693.3(POLG):c.3520C>A (p.Pro1174Thr)	POLG (P1174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336586	NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)	POLG, POLGARF (G923D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 3308462	NM_002693.3(POLG):c.2078A>C (p.Glu693Ala)	POLG, POLGARF (E693A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308461	NM_002693.3(POLG):c.2131G>T (p.Ala711Ser)	POLG, POLGARF (A711S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308460	NM_002693.3(POLG):c.1765C>T (p.Pro589Ser)	POLG, POLGARF (P589S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308459	NM_002693.3(POLG):c.3077G>T (p.Arg1026Leu)	POLG, POLGARF (R1026L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308458	NM_002693.3(POLG):c.3202G>A (p.Asp1068Asn)	POLG, POLGARF (D1068N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252852	NM_002693.3(POLG):c.679_680del (p.Arg227fs)	POLG, POLGARF (R227fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3252700	NM_002693.3(POLG):c.3658A>G (p.Ile1220Val)	FANCI, POLG (I1220V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252650	NM_002693.3(POLG):c.2982-10C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252277	NM_002693.3(POLG):c.2042T>C (p.Leu681Pro)	POLG, POLGARF (L681P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251872	NM_002693.3(POLG):c.2981G>A (p.Trp994Ter)	POLG, POLGARF (W994*)	Single nucleotide variant (nonsense)	POLG-Related Spectrum Disorders	GPathogenic
Select item 3251855	NM_002693.3(POLG):c.2403G>C (p.Trp801Cys)	POLG, POLGARF (W801C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250920	NM_002693.3(POLG):c.1114G>A (p.Glu372Lys)	POLG (E372K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243755	NC_000015.9:g.(?_89862162)_(89864159_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243754	NC_000015.9:g.(?_89856115)_(89862000_?)del	FANCI, POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243753	NC_000015.9:g.(?_89860587)_(89876985_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243752	NC_000015.9:g.(?_89862142)_(89867152_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243751	NC_000015.9:g.(?_89873292)_(89873527_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243750	NC_000015.9:g.(?_89860587)_(89860787_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243700	NC_000015.9:g.(?_89828307)_(89876985_?)del	FANCI, POLG	Deletion	Fanconi anemia +1 more	GPathogenic
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3241955	NM_002693.3(POLG):c.2755A>G (p.Met919Val)	POLG, POLGARF (M919V)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +2 more	GLikely pathogenic
Select item 3240178	NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)	POLG, POLGARF (E616*)	Insertion (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240176	NM_002693.3(POLG):c.740del (p.Leu247fs)	POLG, POLGARF (L247fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240175	NM_002693.3(POLG):c.855+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240174	NM_002693.3(POLG):c.659+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240173	NM_002693.3(POLG):c.3539dup (p.Ser1181fs)	POLG, POLGARF (S1181fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240172	NM_002693.3(POLG):c.1712+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240171	NM_002693.3(POLG):c.130C>T (p.Gln44Ter)	POLG, POLGARF (Q44*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3233568	NM_002693.3(POLG):c.1585+17G>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3233457	NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)	POLG, POLGARF	Indel (missense variant)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 3216330	NM_002693.3(POLG):c.794T>C (p.Leu265Ser)	POLG, POLGARF (L265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216329	NM_002693.3(POLG):c.3631G>T (p.Gly1211Trp)	POLG, POLGARF (G1211W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068992	NM_002693.3(POLG):c.2785A>T (p.Thr929Ser)	POLG, POLGARF (T929S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068474	NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)	POLG, POLGARF (K796Q)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	GUncertain significance
Select item 3068318	NM_002693.3(POLG):c.2863T>C (p.Tyr955His)	POLG (Y955H)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GPathogenic
Select item 3061701	NM_002693.3(POLG):c.69G>A (p.Gly23=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3054030	NM_002693.3(POLG):c.*42C>T	FANCI, POLG	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 3053690	NM_002693.3(POLG):c.2202T>C (p.His734=)	POLG	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3048999	NM_002693.3(POLG):c.141G>A (p.Gln47=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3045708	NM_002693.3(POLG):c.1257C>G (p.Pro419=)	POLG	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3035924	NM_002693.3(POLG):c.1991G>C (p.Gly664Ala)	POLG (G664A)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 3034345	NM_002693.3(POLG):c.3402T>C (p.His1134=)	POLG	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3031567	NM_002693.3(POLG):c.954C>A (p.Gly318=)	POLG	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3031336	NM_002693.3(POLG):c.2775G>A (p.Lys925=)	POLG	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 3029589	NM_002693.3(POLG):c.-72C>G	POLG	Single nucleotide variant (5 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 3029170	NM_002693.3(POLG):c.1561C>T (p.Pro521Ser)	POLG (P521S)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 3029127	NM_002693.3(POLG):c.2071-24A>G	POLG	Single nucleotide variant (intron variant)	POLG-related disorder	GLikely benign
Select item 3027430	NM_002693.3(POLG):c.2363_2374del (p.Gly788_Leu792delinsVal)	POLG	Deletion (inframe_indel)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 3026959	NM_002693.3(POLG):c.2746T>C (p.Phe916Leu)	POLG (F916L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026604	NM_002693.3(POLG):c.2882T>C (p.Phe961Ser)	POLG (F961S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023274	NM_002693.3(POLG):c.2158-12T>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3021471	NM_002693.3(POLG):c.1335G>C (p.Leu445=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3019306	NM_002693.3(POLG):c.2981+5G>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3017121	NM_002693.3(POLG):c.3104+16G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3016543	NM_002693.3(POLG):c.1170+19C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015966	NM_002693.3(POLG):c.720G>A (p.Ser240=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015922	NM_002693.3(POLG):c.2605C>A (p.Arg869=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015822	NM_002693.3(POLG):c.2981+20C>G	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015811	NM_002693.3(POLG):c.660-12C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015655	NM_002693.3(POLG):c.1950-28GCT[5]	POLG	Microsatellite (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3013692	NM_002693.3(POLG):c.3482+1G>T	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3013329	NM_002693.3(POLG):c.3187A>G (p.Ser1063Gly)	POLG (S1063G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3012605	NM_002693.3(POLG):c.2266-16C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3011612	NM_002693.3(POLG):c.3483-19_3483-17del	POLG	Deletion (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3011541	NM_002693.3(POLG):c.777A>G (p.Arg259=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3011384	NM_002693.3(POLG):c.3219G>T (p.Pro1073=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign

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