"Revvity Omics, Revvity"[submitter] AND "ATP6V0A4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5159	NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	ATP6V0A4 (R807Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 2439386	NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)	ATP6V0A4 (R743L)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GUncertain significance
Select item 2172088	NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)	ATP6V0A4 (R667W)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GUncertain significance
Select item 1323841	NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter)	ATP6V0A4 (Y624*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GPathogenic
Select item 2160228	NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)	ATP6V0A4 (P510T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1323843	NM_020632.3(ATP6V0A4):c.292-1G>A	ATP6V0A4	Single nucleotide variant (splice acceptor variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GPathogenic/Likely pathogenic

ClinVar