"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ATP5F1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382049	NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val)	ATP5F1A (I223V +2 more)	Single nucleotide variant (missense variant)	ATP5F1A-related condition +1 more	GBenign
Select item 380491	NM_004046.6(ATP5F1A):c.564A>G (p.Pro188=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 559363	NM_004046.6(ATP5F1A):c.483+2T>C	ATP5F1A	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 559364	NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His)	ATP5F1A (R83H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380086	NM_004046.6(ATP5F1A):c.140-4A>G	ATP5F1A	Single nucleotide variant (intron variant)	ATP5F1A-related condition +2 more	GBenign
Select item 381409	NM_004046.6(ATP5F1A):c.94G>T (p.Ala32Ser)	ATP5F1A (A32S)	Single nucleotide variant (5 prime UTR variant +1 more)	ATP5F1A-related condition +2 more	GBenign
Select item 445307	NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)	ATP5F1A, LOC126862738 (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign

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