"Genome-Nilou Lab"[submitter] AND "AFG3L2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 12 +3 more	GBenign
Select item 128287	NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 128286	NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 1188960	NM_006796.3(AFG3L2):c.753-55T>C	AFG3L2	Single nucleotide variant (intron variant)	Spastic ataxia 5 +3 more	GBenign
Select item 136312	NM_006796.3(AFG3L2):c.752+6C>T	AFG3L2	Single nucleotide variant (intron variant)	Spastic ataxia 5 +4 more	GBenign

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