ClinVar for MedGen (Select 350480) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375474	NM_007215.4(POLG2):c.729_730del (p.Pro244fs)	MILR1, POLG2 (P244fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GPathogenic
Select item 3367103	NM_007215.4(POLG2):c.1110+2T>A	MILR1, POLG2	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GLikely pathogenic
Select item 3065651	NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)	MILR1, POLG2 (Q397*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 2664901	NM_007215.4(POLG2):c.1060T>C (p.Phe354Leu)	MILR1, POLG2 (F354L)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +1 more	GUncertain significance
Select item 1913139	NM_007215.4(POLG2):c.770G>A (p.Arg257His)	MILR1, POLG2 (R257H)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +1 more	GUncertain significance
Select item 1895400	NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter)	MILR1, POLG2 (R344*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 1342575	NM_007215.4(POLG2):c.775C>T (p.Arg259Ter)	MILR1, POLG2 (R259*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +2 more	GConflicting classifications of pathogenicity
Select item 1333959	NM_007215.4(POLG2):c.367G>A (p.Glu123Lys)	MILR1, POLG2 (E123K)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 1242149	NM_007215.4(POLG2):c.1110+44T>C	MILR1, POLG2	Single nucleotide variant (intron variant)	Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) +3 more	GBenign
Select item 1033197	NM_007215.4(POLG2):c.749A>G (p.Gln250Arg)	MILR1, POLG2 (Q250R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 1027735	NM_007215.4(POLG2):c.743C>T (p.Ser248Leu)	MILR1, POLG2 (S248L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892465	NM_007215.4(POLG2):c.-70T>C	MILR1, POLG2	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GBenign
Select item 891272	NM_007215.4(POLG2):c.366G>T (p.Arg122Ser)	MILR1, POLG2 (R122S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891271	NM_007215.4(POLG2):c.381G>A (p.Pro127=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 889721	NM_007215.4(POLG2):c.970-4G>A	MILR1, POLG2	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 889720	NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu)	MILR1, POLG2 (F439L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632287	NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer)	MILR1, POLG2	Deletion (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 488881	NM_007215.4(POLG2):c.673C>T (p.Arg225Ter)	MILR1, POLG2 (R225*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 384209	NM_007215.4(POLG2):c.562+11C>T	MILR1, POLG2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 324565	NM_007215.4(POLG2):c.-85C>T	MILR1, POLG2	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 324564	NM_007215.4(POLG2):c.-81T>C	MILR1, POLG2	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +1 more	GBenign
Select item 324563	NM_007215.4(POLG2):c.-66C>T	MILR1, POLG2	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 324562	NM_007215.4(POLG2):c.-61G>A	MILR1, POLG2	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GBenign
Select item 324561	NM_007215.4(POLG2):c.358G>A (p.Val120Met)	MILR1, POLG2 (V120M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 324560	NM_007215.4(POLG2):c.496C>G (p.Gln166Glu)	MILR1, POLG2 (Q166E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 324559	NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)	MILR1, POLG2 (R225Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260154	NM_007215.4(POLG2):c.1191+6dup	MILR1, POLG2	Duplication (intron variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +5 more	GBenign
Select item 252958	NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)	MILR1, POLG2 (R182W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215027	NM_007215.4(POLG2):c.1444G>T (p.Ala482Ser)	MILR1, POLG2 (A482S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215023	NM_007215.4(POLG2):c.397C>T (p.His133Tyr)	MILR1, POLG2 (H133Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 215022	NM_007215.4(POLG2):c.181G>A (p.Gly61Arg)	MILR1, POLG2 (G61R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215019	NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)	MILR1, POLG2 (D473N)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 215017	NM_007215.4(POLG2):c.457C>G (p.Leu153Val)	MILR1, POLG2 (L153V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 138784	NM_007215.4(POLG2):c.1269C>T (p.Ser423=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign
Select item 138783	NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)	POLG2, MILR1 (G416A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 138782	NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)	MILR1, POLG2 (A169T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 40249	NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs)	POLG2, MILR1 (L475fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GPathogenic
Select item 40248	NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	MILR1, POLG2 (R369G)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign/Likely benign
Select item 40247	NM_007215.4(POLG2):c.614C>G (p.Pro205Arg)	POLG2, MILR1 (P205R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GPathogenic
Select item 5276	NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)	MILR1, POLG2 (G451E)	Single nucleotide variant (missense variant)	POLG2-related disorder	GLikely pathogenic

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Items: 40