Related gene-specific medical variations for Gene (Select 539) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131841	NM_001697.3(ATP5PO):c.7G>T (p.Ala3Ser)	ATP5PO, LOC130066573 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131836	NM_001697.3(ATP5PO):c.38T>C (p.Val13Ala)	ATP5PO, LOC126653351 (V13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131834	NM_001697.3(ATP5PO):c.20C>G (p.Ser7Cys)	ATP5PO, LOC130066573 (S7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131833	NM_001697.3(ATP5PO):c.19T>C (p.Ser7Pro)	ATP5PO, LOC130066573 (S7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530473	NM_001697.3(ATP5PO):c.70T>C (p.Phe24Leu)	ATP5PO, LOC126653351 (F24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528455	NM_001697.3(ATP5PO):c.74C>G (p.Ala25Gly)	ATP5PO, LOC126653351 (A25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804024	NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)	ATP5PO, LOC130066573 (Q12*)	Single nucleotide variant (nonsense)	Severe global developmental delay +3 more	GPathogenic
Select item 977787	NM_001697.3(ATP5PO):c.87+3A>G	ATP5PO, LOC126653351	Single nucleotide variant (intron variant)	ATP5PO-related disorder +1 more	GPathogenic/Likely pathogenic

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