Related gene-specific medical variations for Gene (Select 291) - ClinVar - NCBI

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Items: 8

	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 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 1319295	NM_001151.4(SLC25A4):c.197G>A (p.Gly66Asp)	SLC25A4 (G66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994105	NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs)	SLC25A4 (A86fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +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