ATP5PO[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033865	NM_001697.3(ATP5PO):c.565A>G (p.Ile189Val)	ATP5PO (I189V)	Single nucleotide variant (missense variant)	ATP5PO-related disorder	GLikely benign
Select item 3131839	NM_001697.3(ATP5PO):c.551G>C (p.Gly184Ala)	ATP5PO (G184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131838	NM_001697.3(ATP5PO):c.518T>C (p.Leu173Ser)	ATP5PO (L173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329390	NM_001697.3(ATP5PO):c.460C>G (p.Leu154Val)	ATP5PO (L154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131837	NM_001697.3(ATP5PO):c.407G>A (p.Arg136His)	ATP5PO (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804019	NM_001697.3(ATP5PO):c.329-20A>G	ATP5PO	Single nucleotide variant (intron variant)	Severe global developmental delay +3 more	GPathogenic
Select item 1341585	NM_001697.3(ATP5PO):c.321T>C (p.Asn107=)	ATP5PO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2547973	NM_001697.3(ATP5PO):c.314C>T (p.Thr105Ile)	ATP5PO (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131835	NM_001697.3(ATP5PO):c.254G>T (p.Arg85Leu)	ATP5PO (R85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471440	NM_001697.3(ATP5PO):c.242C>T (p.Pro81Leu)	ATP5PO (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance