"Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medici - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317308	NM_002693.3(POLG):c.*49G>A	POLGARF, FANCI +1 more	Single nucleotide variant (3 prime UTR variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317310	NM_002693.3(POLG):c.*30G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I +12 more	GBenign/Likely benign
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 598136	NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)	FANCI, POLG +1 more (T1227N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 619449	NM_002693.3(POLG):c.3673dup (p.Glu1225fs)	FANCI, POLG +1 more (E1225fs)	Duplication (frameshift variant +1 more)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 449313	NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr)	FANCI, POLG +1 more (I1224T)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	FANCI, POLG +1 more (I1223V)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +8 more	GConflicting classifications of pathogenicity
Select item 206489	NM_002693.3(POLG):c.3652C>T (p.Leu1218=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 206575	NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	FANCI, POLG +1 more (A1217V)	Single nucleotide variant (missense variant +1 more)	POLG-Related Spectrum Disorders +9 more	GUncertain significance
Select item 129998	NM_002693.3(POLG):c.3644-9A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 206488	NM_002693.3(POLG):c.3644-14G>C	POLGARF, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 317312	NM_002693.3(POLG):c.3644-16T>C	POLG, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 619393	NM_002693.3(POLG):c.3643+180G>A	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GBenign/Likely benign
Select item 619496	NM_002693.3(POLG):c.3643+48A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619495	NM_002693.3(POLG):c.3643+25A>G	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 619344	NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu)	POLG, POLGARF (Q1214E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 488798	NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	POLG, POLGARF (Q1214*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619343	NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)	POLG, POLGARF (G1205A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619342	NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser)	POLG, POLGARF (T1204S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 138766	NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 206571	NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)	POLG, POLGARF (D1196N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 619341	NM_002693.3(POLG):c.3584T>G (p.Met1195Arg)	POLG, POLGARF (M1195R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 426681	NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)	POLG, POLGARF (K1191N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 619340	NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)	POLG, POLGARF (K1191R)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619339	NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)	POLG, POLGARF (C1188R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 129997	NM_002693.3(POLG):c.3561G>C (p.Arg1187=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206570	NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	POLG, POLGARF (R1187W)	Single nucleotide variant (missense variant)	POLG-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 374526	NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)	POLG, POLGARF (S1181N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 619338	NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)	POLG, POLGARF (S1176P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 413485	NM_002693.3(POLG):c.3519G>A (p.Leu1173=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 206569	NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu)	POLG, POLGARF (D1172E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 206618	NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	POLG, POLGARF (L1170R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 619313	NM_002693.3(POLG):c.3483-4_3497del	POLG, POLGARF	Deletion (splice acceptor variant)	Progressive sclerosing poliodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 619402	NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs)	POLG, POLGARF (A1165fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 372866	NM_002693.3(POLG):c.3483-2A>G	POLGARF, POLG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 619378	NM_002693.3(POLG):c.3483-14T>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 138763	NM_002693.3(POLG):c.3483-19T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 619494	NM_002693.3(POLG):c.3483-41A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 619493	NM_002693.3(POLG):c.3482+44G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 129996	NM_002693.3(POLG):c.3482+7G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138760	NM_002693.3(POLG):c.3482+6C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 619439	NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)	POLG, POLGARF (L1158I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 206565	NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)	POLG, POLGARF (N1157S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619377	NM_002693.3(POLG):c.3456C>G (p.Ala1152=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 378418	NM_002693.3(POLG):c.3451C>T (p.Leu1151=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206477	NM_002693.3(POLG):c.3450C>T (p.Ala1150=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 619312	NM_002693.3(POLG):c.3447dup (p.Ala1150fs)	POLG, POLGARF (A1150fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 21313	NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	POLGARF, POLG (R1146C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619311	NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)	POLG, POLGARF (D1145fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 559173	NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)	POLG, POLGARF (R1138C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 391039	NM_002693.3(POLG):c.3405C>T (p.Asp1135=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619437	NM_002693.3(POLG):c.3390C>T (p.Cys1130=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 593423	NM_002693.3(POLG):c.3383G>A (p.Arg1128His)	POLG, POLGARF (R1128H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 619436	NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)	POLG, POLGARF (L1113P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 619435	NM_002693.3(POLG):c.3306G>C (p.Gln1102His)	POLG, POLGARF (Q1102H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 619434	NM_002693.3(POLG):c.3298G>A (p.Val1100Met)	POLG, POLGARF (V1100M)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 138759	NM_002693.3(POLG):c.3294T>C (p.Asn1098=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619433	NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)	POLG, POLGARF (N1098I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 206557	NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	POLG, POLGARF (R1096H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG, POLGARF (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 381517	NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	POLG, POLGARF (S1095R)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 138758	NM_002693.3(POLG):c.3274-19G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 619376	NM_002693.3(POLG):c.3274-47G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619375	NM_002693.3(POLG):c.3273+34G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619374	NM_002693.3(POLG):c.3273+28A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619432	NM_002693.3(POLG):c.3273+8G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 317324	NM_002693.3(POLG):c.3273+6T>A	POLGARF, POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619431	NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)	POLG, POLGARF (Q1089R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 596900	NM_002693.3(POLG):c.3258G>A (p.Ser1086=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 419974	NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 619430	NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)	POLG, POLGARF (R1081P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 619310	NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)	POLG, POLGARF (R1081*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 619337	NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu)	POLG, POLGARF (I1079L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 619336	NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)	POLG, POLGARF (C1077G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619482	NM_002693.3(POLG):c.3228C>G (p.Gly1076=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 514380	NM_002693.3(POLG):c.3222G>T (p.Val1074=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 13516	NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	POLG, POLGARF (P1073L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 138757	NM_002693.3(POLG):c.3216C>G (p.Thr1072=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 388649	NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)	POLG, POLGARF (D1068E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 138756	NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 619335	NM_002693.3(POLG):c.3170T>C (p.Met1057Thr)	POLG, POLGARF (M1057T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 566044	NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	POLG, POLGARF (G1051R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 619309	NM_002693.3(POLG):c.3149del (p.Lys1050fs)	POLG, POLGARF (K1050fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG, POLGARF (R1047W)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GConflicting classifications of pathogenicity
Select item 129994	NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	POLG, POLGARF (V1044A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +11 more	GConflicting classifications of pathogenicity
Select item 619481	NM_002693.3(POLG):c.3126G>A (p.Glu1042=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 619479	NM_002693.3(POLG):c.3105-19T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 619480	NM_002693.3(POLG):c.3105-22C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619492	NM_002693.3(POLG):c.3105-36A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GBenign
Select item 619392	NM_002693.3(POLG):c.3104+64A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619478	NM_002693.3(POLG):c.3104+50C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619477	NM_002693.3(POLG):c.3104+32G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619476	NM_002693.3(POLG):c.3104+27G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619475	NM_002693.3(POLG):c.3104+24G>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 206471	NM_002693.3(POLG):c.3104+8C>A	POLGARF, POLG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 587863	NM_002693.3(POLG):c.3104+3A>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +6 more	GPathogenic/Likely pathogenic

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