"Ambry Genetics"[submitter] AND "ATP5F1A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593225	NM_004046.6(ATP5F1A):c.1502C>T (p.Pro501Leu)	ATP5F1A (P501L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682743	NM_004046.6(ATP5F1A):c.1459G>A (p.Val487Ile)	ATP5F1A (V437I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489042	NM_004046.6(ATP5F1A):c.1285G>T (p.Val429Leu)	ATP5F1A (V379L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1901881	NM_004046.6(ATP5F1A):c.745A>G (p.Ile249Val)	ATP5F1A (I199V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2459715	NM_004046.6(ATP5F1A):c.505C>T (p.Arg169Cys)	ATP5F1A (R147C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479417	NM_004046.6(ATP5F1A):c.446G>A (p.Arg149His)	ATP5F1A (R99H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321602	NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly)	ATP5F1A (D139G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1900901	NM_004046.6(ATP5F1A):c.172C>T (p.Arg58Cys)	ATP5F1A (R8C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance