"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATP6V0A4"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778365	NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GBenign/Likely benign
Select item 1018488	NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg)	ATP6V0A4 (K824R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 5159	NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	ATP6V0A4 (R807Q)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +2 more	GPathogenic/Likely pathogenic
Select item 1363899	NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg)	ATP6V0A4 (G777R)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GUncertain significance
Select item 632498	NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)	ATP6V0A4 (R770*)	Single nucleotide variant (nonsense)	Autosomal recessive distal renal tubular acidosis +2 more	GPathogenic/Likely pathogenic
Select item 840914	NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser)	ATP6V0A4 (G766S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1328935	NM_020632.3(ATP6V0A4):c.2257+1G>A	ATP6V0A4	Single nucleotide variant (splice donor variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
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
Select item 1353908	NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg)	ATP6V0A4 (H710R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 908602	NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg)	ATP6V0A4 (G705R)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +3 more	GUncertain significance
Select item 908603	NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp)	ATP6V0A4 (E682D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 799533	NM_020632.3(ATP6V0A4):c.2011-8G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 520732	NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)	ATP6V0A4 (R663fs)	Duplication (frameshift variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 1669916	NM_020632.3(ATP6V0A4):c.1909-19C>T	ATP6V0A4	Single nucleotide variant (intron variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GLikely benign
Select item 726875	NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GBenign/Likely benign
Select item 1486024	NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg)	ATP6V0A4 (W598R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 802369	NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)	ATP6V0A4 (C585*)	Single nucleotide variant (nonsense)	Autosomal recessive distal renal tubular acidosis +1 more	GLikely pathogenic
Select item 359014	NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile)	ATP6V0A4 (M580I)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +1 more	GUncertain significance
Select item 910401	NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)	ATP6V0A4 (R568T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 5152	NM_020632.3(ATP6V0A4):c.1691+1G>A	ATP6V0A4	Single nucleotide variant (splice donor variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GPathogenic
Select item 591689	NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys)	ATP6V0A4 (S559C)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GUncertain significance
Select item 747071	NM_020632.3(ATP6V0A4):c.1573-3C>T	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis +2 more	GLikely benign
Select item 359017	NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met)	ATP6V0A4 (T462M)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GUncertain significance
Select item 911620	NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys)	ATP6V0A4 (R431C)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GUncertain significance
Select item 384333	NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)	ATP6V0A4 (D411Y)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +3 more	GPathogenic/Likely pathogenic
Select item 908670	NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala)	ATP6V0A4 (T397A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1647448	NM_020632.3(ATP6V0A4):c.1030-18T>C	ATP6V0A4	Single nucleotide variant (intron variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GLikely benign
Select item 908671	NM_020632.3(ATP6V0A4):c.1029+5G>A	ATP6V0A4	Single nucleotide variant (intron variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 1364840	NM_020632.3(ATP6V0A4):c.1029+4C>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1010458	NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe)	ATP6V0A4 (S294F)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GUncertain significance
Select item 909532	NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp)	ATP6V0A4 (E278D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1616360	NM_020632.3(ATP6V0A4):c.816+19C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 359024	NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn)	ATP6V0A4 (I271N)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +3 more	GUncertain significance
Select item 359027	NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1263241	NM_020632.3(ATP6V0A4):c.640-29dup	ATP6V0A4	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 911682	NM_020632.3(ATP6V0A4):c.417+14G>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1155488	NM_020632.3(ATP6V0A4):c.417+8C>T	ATP6V0A4	Single nucleotide variant (intron variant)	ATP6V0A4-related disorder +2 more	GLikely benign
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
Select item 1584769	NM_020632.3(ATP6V0A4):c.118-10G>A	ATP6V0A4	Single nucleotide variant (intron variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GBenign/Likely benign
Select item 1179181	NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter)	ATP6V0A4, LOC129389889 (Q18*)	Single nucleotide variant (nonsense)	Autosomal recessive distal renal tubular acidosis	GLikely pathogenic

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Items: 40