Related gene-specific medical variations for Gene (Select 5428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3243755	NC_000015.9:g.(?_89862162)_(89864159_?)del	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 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 3048999	NM_002693.3(POLG):c.141G>A (p.Gln47=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	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 3015811	NM_002693.3(POLG):c.660-12C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3010773	NM_002693.3(POLG):c.1586-8C>A	POLG, MIR6766	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3010108	NM_002693.3(POLG):c.393C>T (p.Tyr131=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3004155	NM_002693.3(POLG):c.111C>T (p.Asp37=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003414	NM_002693.3(POLG):c.630A>G (p.Thr210=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3000828	NM_002693.3(POLG):c.471G>T (p.Leu157=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3000540	NM_002693.3(POLG):c.94G>A (p.Ala32Thr)	POLG, POLGARF (A32T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2999616	NM_002693.3(POLG):c.456G>A (p.Glu152=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2998679	NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2997814	NM_002693.3(POLG):c.71G>T (p.Arg24Leu)	POLG, POLGARF (R24L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2996176	NM_002693.3(POLG):c.225C>T (p.Asp75=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2992771	NM_002693.3(POLG):c.3644-9_3644-8del	FANCI, POLG	Deletion (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2991008	NM_002693.3(POLG):c.591C>A (p.Phe197Leu)	POLG, POLGARF (F197L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2988879	NM_002693.3(POLG):c.39C>G (p.Thr13=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2987131	NM_002693.3(POLG):c.3645T>G (p.Gly1215=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2980335	NM_001113378.2(FANCI):c.3925-14C>A	FANCI, POLG	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2979365	NM_002693.3(POLG):c.273A>G (p.Gly91=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2975198	NM_001113378.2(FANCI):c.3925-14C>T	FANCI, POLG	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2973075	NM_002693.3(POLG):c.216C>T (p.Asn72=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2972711	NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)	FANCI, POLG (G1238A)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2971522	NM_002693.3(POLG):c.508G>T (p.Ala170Ser)	POLG, POLGARF (A170S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2970694	NM_002693.3(POLG):c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2968380	NM_002693.3(POLG):c.3693G>A (p.Leu1231=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2955312	NM_002693.3(POLG):c.531G>A (p.Arg177=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2920503	NM_002693.3(POLG):c.659+13A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2918608	NM_002693.3(POLG):c.157C>T (p.Gln53Ter)	POLG, POLGARF (Q53*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 2915777	NM_002693.3(POLG):c.284C>T (p.Pro95Leu)	POLG, POLGARF (P95L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2915732	NM_002693.3(POLG):c.509C>T (p.Ala170Val)	POLG, POLGARF (A170V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2910263	NM_002693.3(POLG):c.1586-9C>T	MIR6766, POLG	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2907671	NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)	FANCI, POLG (E1232G)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2907084	NM_002693.3(POLG):c.161AGC[1] (p.Gln55del)	POLG, POLGARF (Q55del)	Microsatellite (inframe_deletion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2905555	NM_001113378.2(FANCI):c.3925-5T>C	POLG, FANCI	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2904243	NM_001113378.2(FANCI):c.3925-15_3925-11dup	FANCI, POLG	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2902056	NM_002693.3(POLG):c.276G>A (p.Gly92=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2898487	NM_002693.3(POLG):c.342G>T (p.Gly114=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2897075	NM_002693.3(POLG):c.1586-10A>C	MIR6766, POLG	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2895812	NM_002693.3(POLG):c.442C>T (p.Leu148=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2887727	NM_002693.3(POLG):c.660-16C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2886949	NM_002693.3(POLG):c.562G>A (p.Ala188Thr)	POLG, POLGARF (A188T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2885332	NM_002693.3(POLG):c.192G>A (p.Ser64=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2883152	NM_002693.3(POLG):c.96G>A (p.Ala32=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2882740	NM_002693.3(POLG):c.659+14G>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2882499	NM_002693.3(POLG):c.373C>G (p.Leu125Val)	POLG, POLGARF (L125V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2875310	NM_002693.3(POLG):c.142C>G (p.Gln48Glu)	POLG, POLGARF (Q48E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2871158	NM_002693.3(POLG):c.403C>T (p.Leu135=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2870404	NM_001113378.2(FANCI):c.3925-13_3925-10dup	FANCI, POLG	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2870321	NM_002693.3(POLG):c.603C>G (p.Val201=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2865720	NM_002693.3(POLG):c.451C>T (p.Leu151=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2864959	NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys)	FANCI, POLG (E1216K)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2864561	NM_002693.3(POLG):c.311T>C (p.Val104Ala)	POLG, POLGARF (V104A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2864411	NM_002693.3(POLG):c.590_596del (p.Phe197fs)	POLG, POLGARF (F197fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 2863207	NM_002693.3(POLG):c.1586-6T>A	MIR6766, POLG	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2859564	NM_002693.3(POLG):c.459G>A (p.Ala153=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2858254	NM_002693.3(POLG):c.219A>T (p.Pro73=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2858095	NM_002693.3(POLG):c.438G>C (p.Gln146His)	POLGARF, POLG (Q146H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2856894	NM_002693.3(POLG):c.595G>T (p.Val199Leu)	POLG, POLGARF (V199L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2851366	NM_002693.3(POLG):c.3654G>C (p.Leu1218=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2848680	NM_002693.3(POLG):c.302G>T (p.Arg101Leu)	POLG, POLGARF (R101L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance

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