ClinVar for MedGen (Select 322925) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065047	NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)	SLC25A4 (G16D)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 1705416	NM_001151.4(SLC25A4):c.787A>G (p.Lys263Glu)	SLC25A4 (K263E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308141	NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser)	SLC25A4 (R111S)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +3 more	GUncertain significance
Select item 903041	NM_001151.4(SLC25A4):c.*3394A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 903040	NM_001151.4(SLC25A4):c.*3336G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 903039	NM_001151.4(SLC25A4):c.*3335C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902981	NM_001151.4(SLC25A4):c.*2475C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902980	NM_001151.4(SLC25A4):c.*2363G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902979	NM_001151.4(SLC25A4):c.*2150G>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902161	NM_001151.4(SLC25A4):c.*3317G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902160	NM_001151.4(SLC25A4):c.*3264G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902159	NM_001151.4(SLC25A4):c.*3229A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902158	NM_001151.4(SLC25A4):c.*3195T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902157	NM_001151.4(SLC25A4):c.*3110G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 902103	NM_001151.4(SLC25A4):c.*1546T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902102	NM_001151.4(SLC25A4):c.*1217A>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 902042	NM_001151.4(SLC25A4):c.-65C>T	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 901524	NM_001151.4(SLC25A4):c.*994G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 901523	NM_001151.4(SLC25A4):c.*655G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 901522	NM_001151.4(SLC25A4):c.*571T>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900488	NM_001151.4(SLC25A4):c.*3025G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900487	NM_001151.4(SLC25A4):c.*2802C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900429	NM_001151.4(SLC25A4):c.*2697T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900428	NM_001151.4(SLC25A4):c.*2618C>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900427	NM_001151.4(SLC25A4):c.*2616C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 900426	NM_001151.4(SLC25A4):c.*2510T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900425	NM_001151.4(SLC25A4):c.*2499G>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900375	NM_001151.4(SLC25A4):c.*482G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900374	NM_001151.4(SLC25A4):c.*448G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 900373	NM_001151.4(SLC25A4):c.*277C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 900372	NM_001151.4(SLC25A4):c.*151T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 704300	NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related condition +4 more	GLikely benign
Select item 691710	NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn)	SLC25A4 (D248N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 348286	NM_001151.4(SLC25A4):c.*3277G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348285	NM_001151.4(SLC25A4):c.*3276C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348284	NM_001151.4(SLC25A4):c.*3114C>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348283	NM_001151.4(SLC25A4):c.*3070C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348282	NM_001151.4(SLC25A4):c.*2943G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348281	NM_001151.4(SLC25A4):c.*2824G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348280	NM_001151.4(SLC25A4):c.*2782G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348279	NM_001151.4(SLC25A4):c.*2720G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348278	NM_001151.4(SLC25A4):c.*2713G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348277	NM_001151.4(SLC25A4):c.*2592C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348276	NM_001151.4(SLC25A4):c.*2529C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348275	NM_001151.4(SLC25A4):c.*2476G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348274	NM_001151.4(SLC25A4):c.*2466C>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348272	NM_001151.4(SLC25A4):c.*2350G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348271	NM_001151.4(SLC25A4):c.*2307T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348270	NM_001151.4(SLC25A4):c.*2050A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348268	NM_001151.4(SLC25A4):c.*1985T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348267	NM_001151.4(SLC25A4):c.*1792C>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348266	NM_001151.4(SLC25A4):c.*1378A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348265	NM_001151.4(SLC25A4):c.*1245T>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348264	NM_001151.4(SLC25A4):c.*1163G>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348263	NM_001151.4(SLC25A4):c.*1146T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348262	NM_001151.4(SLC25A4):c.*1053T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348260	NM_001151.4(SLC25A4):c.*957T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348259	NM_001151.4(SLC25A4):c.*873G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348258	NM_001151.4(SLC25A4):c.*824C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348257	NM_001151.4(SLC25A4):c.*671A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348256	NM_001151.4(SLC25A4):c.*512A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348255	NM_001151.4(SLC25A4):c.*497T>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348253	NM_001151.4(SLC25A4):c.*481G>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 348252	NM_001151.4(SLC25A4):c.*424A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348248	NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys)	SLC25A4 (E265K)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +1 more	GUncertain significance
Select item 348247	NM_001151.4(SLC25A4):c.756G>A (p.Thr252=)	SLC25A4	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GBenign/Likely benign
Select item 348246	NM_001151.4(SLC25A4):c.732G>C (p.Arg244=)	SLC25A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348245	NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=)	SLC25A4	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GLikely benign
Select item 348244	NM_001151.4(SLC25A4):c.-46G>A	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GUncertain significance
Select item 348243	NM_001151.4(SLC25A4):c.-84C>A	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 348242	NM_001151.4(SLC25A4):c.-103C>T	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GBenign
Select item 215173	NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met)	SLC25A4 (T252M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +3 more	GUncertain significance
Select item 215170	NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)	SLC25A4	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GBenign
Select item 139153	NM_001151.4(SLC25A4):c.-25G>A	SLC25A4	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 139152	NM_001151.4(SLC25A4):c.681G>A (p.Val227=)	SLC25A4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 18249	NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	SLC25A4 (A123D)	Single nucleotide variant (missense variant)	Vertigo +9 more	GPathogenic/Likely pathogenic
Select item 18248	NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly)	SLC25A4 (D104G)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GPathogenic
Select item 18247	NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro)	SLC25A4 (L98P)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GPathogenic
Select item 18246	NM_001151.4(SLC25A4):c.865G>A (p.Val289Met)	SLC25A4 (V289M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GPathogenic
Select item 18245	NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro)	SLC25A4 (A114P)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	GPathogenic

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Items: 80