ClinVar for MedGen (Select 815773) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671903	NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)	SLC25A4 (R236C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	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 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 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 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 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 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 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 562200	NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val)	SLC25A4 (G172V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive +1 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 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 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 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 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 268150	NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)	SLC25A4 (R236P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	GPathogenic
Select item 268149	NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs)	SLC25A4 (Q39fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	GPathogenic
Select item 215174	NM_001151.4(SLC25A4):c.523del (p.Gln175fs)	SLC25A4 (Q175fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 66011	NM_001151.4(SLC25A4):c.111+1G>A	SLC25A4	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	GPathogenic
Select item 18249	NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	SLC25A4 (A123D)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment +9 more	GPathogenic/Likely pathogenic

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Items: 24