C1864498[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973549	NM_020632.3(ATP6V0A4):c.2140-61_2257+166del	ATP6V0A4	Deletion (splice acceptor variant +1 more)	Autosomal recessive distal renal tubular acidosis	GPathogenic
Select item 5150	NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)	ATP6V0A4 (Q753*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic