"GeneDx"[submitter] AND "ATP6V0A4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 358999	NM_020632.3(ATP6V0A4):c.*239G>A	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 359000	NM_020632.3(ATP6V0A4):c.*162C>T	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359001	NM_020632.3(ATP6V0A4):c.*111C>A	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3378240	NM_020632.3(ATP6V0A4):c.2430-3C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1252452	NM_020632.3(ATP6V0A4):c.2430-92C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279939	NM_020632.3(ATP6V0A4):c.2430-134T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217502	NM_020632.3(ATP6V0A4):c.2430-159C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240870	NM_020632.3(ATP6V0A4):c.2430-194dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1237608	NM_020632.3(ATP6V0A4):c.2430-173del	ATP6V0A4	Deletion (intron variant)	not provided	GBenign
Select item 2499759	NM_020632.3(ATP6V0A4):c.2429+3A>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 450988	NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)	ATP6V0A4 (R807*)	Single nucleotide variant (nonsense)	Autosomal recessive distal renal tubular acidosis +1 more	GPathogenic/Likely pathogenic
Select item 632498	NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)	ATP6V0A4 (R770*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 359007	NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met)	ATP6V0A4 (T769M)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 1288788	NM_020632.3(ATP6V0A4):c.2258-159_2258-156dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1231522	NM_020632.3(ATP6V0A4):c.2258-161G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294519	NM_020632.3(ATP6V0A4):c.2257+254_2257+256del	ATP6V0A4	Microsatellite (intron variant)	not provided	GBenign
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 1250321	NM_020632.3(ATP6V0A4):c.2140-170G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283016	NM_020632.3(ATP6V0A4):c.2140-232T>G	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199675	NM_020632.3(ATP6V0A4):c.2139+332G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271205	NM_020632.3(ATP6V0A4):c.2139+274G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182448	NM_020632.3(ATP6V0A4):c.2139+238C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703471	NM_020632.3(ATP6V0A4):c.2080C>T (p.Arg694Cys)	ATP6V0A4 (R694C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261344	NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr)	ATP6V0A4 (D679Y)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1211000	NM_020632.3(ATP6V0A4):c.2011-334A>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249867	NM_020632.3(ATP6V0A4):c.1909-146C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224705	NM_020632.3(ATP6V0A4):c.1909-295T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253095	NM_020632.3(ATP6V0A4):c.1908+285C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190336	NM_020632.3(ATP6V0A4):c.1908+269T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276065	NM_020632.3(ATP6V0A4):c.1908+222C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269668	NM_020632.3(ATP6V0A4):c.1908+195G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286937	NM_020632.3(ATP6V0A4):c.1908+142T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274962	NM_020632.3(ATP6V0A4):c.1908+71dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1193558	NM_020632.3(ATP6V0A4):c.1908+82_1908+83del	ATP6V0A4	Deletion (intron variant)	not provided	GLikely benign
Select item 1269951	NM_020632.3(ATP6V0A4):c.1908+13dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1268865	NM_020632.3(ATP6V0A4):c.1908+25del	ATP6V0A4	Deletion (intron variant)	not provided	GBenign
Select item 359013	NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr)	ATP6V0A4 (A630T)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign/Likely benign
Select item 261343	NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign
Select item 5154	NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)	ATP6V0A4 (M580T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 910401	NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)	ATP6V0A4 (R568T)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +2 more	GUncertain significance
Select item 1231344	NM_020632.3(ATP6V0A4):c.1692-49C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198593	NM_020632.3(ATP6V0A4):c.1692-99del	ATP6V0A4	Deletion (intron variant)	not provided	GLikely benign
Select item 1223592	NM_020632.3(ATP6V0A4):c.1692-238G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265932	NM_020632.3(ATP6V0A4):c.1691+296G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248333	NM_020632.3(ATP6V0A4):c.1691+271G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288627	NM_020632.3(ATP6V0A4):c.1691+199T>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261342	NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign
Select item 359015	NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 1693442	NM_020632.3(ATP6V0A4):c.1618A>G (p.Lys540Glu)	ATP6V0A4 (K540E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307619	NM_020632.3(ATP6V0A4):c.1593C>G (p.Asn531Lys)	ATP6V0A4 (N531K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192464	NM_020632.3(ATP6V0A4):c.1573-86T>C	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 1259126	NM_020632.3(ATP6V0A4):c.1573-326G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249094	NM_020632.3(ATP6V0A4):c.1573-327T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269196	NM_020632.3(ATP6V0A4):c.1573-343G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230015	NM_020632.3(ATP6V0A4):c.1572+262C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282224	NM_020632.3(ATP6V0A4):c.1572+239A>G	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274403	NM_020632.3(ATP6V0A4):c.1572+74G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450987	NM_020632.3(ATP6V0A4):c.1572G>A (p.Pro524=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 773499	NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 359016	NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly)	ATP6V0A4 (S500G)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign/Likely benign
Select item 1288682	NM_020632.3(ATP6V0A4):c.1479-41G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258978	NM_020632.3(ATP6V0A4):c.1479-126C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178819	NM_020632.3(ATP6V0A4):c.1478+45G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 261341	NM_020632.3(ATP6V0A4):c.1478+17A>G	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign
Select item 1194958	NM_020632.3(ATP6V0A4):c.1321-190T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706928	NM_020632.3(ATP6V0A4):c.1320+180G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279531	NM_020632.3(ATP6V0A4):c.1320+27T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573902	NM_020632.3(ATP6V0A4):c.1256T>G (p.Leu419Arg)	ATP6V0A4 (L419R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384333	NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)	ATP6V0A4 (D411Y)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 1700298	NM_020632.3(ATP6V0A4):c.1185del (p.Tyr396fs)	ATP6V0A4 (Y396fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1290434	NM_020632.3(ATP6V0A4):c.1181-45G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181402	NM_020632.3(ATP6V0A4):c.1181-214A>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205737	NM_020632.3(ATP6V0A4):c.1180+200C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423162	NM_020632.3(ATP6V0A4):c.1180+1del	ATP6V0A4	Deletion (splice donor variant)	not provided	GPathogenic
Select item 359019	NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +2 more	GBenign
Select item 1196350	NM_020632.3(ATP6V0A4):c.1030-18dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 218775	NM_020632.3(ATP6V0A4):c.1030-5del	ATP6V0A4	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1247096	NM_020632.3(ATP6V0A4):c.1029+259del	ATP6V0A4	Deletion (intron variant)	not provided	GBenign
Select item 1240838	NM_020632.3(ATP6V0A4):c.1029+257_1029+259del	ATP6V0A4	Deletion (intron variant)	not provided	GBenign
Select item 1236275	NM_020632.3(ATP6V0A4):c.1029+244A>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274895	NM_020632.3(ATP6V0A4):c.1029+236G>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 908671	NM_020632.3(ATP6V0A4):c.1029+5G>A	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis +3 more	GConflicting classifications of pathogenicity
Select item 422991	NM_020632.3(ATP6V0A4):c.1006_1007del (p.Lys336fs)	ATP6V0A4 (K336fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1227154	NM_020632.3(ATP6V0A4):c.817-58C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251667	NM_020632.3(ATP6V0A4):c.817-132G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276355	NM_020632.3(ATP6V0A4):c.817-231G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222548	NM_020632.3(ATP6V0A4):c.816+269T>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268159	NM_020632.3(ATP6V0A4):c.816+174G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359026	NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg)	ATP6V0A4 (P252R)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 2661940	NM_020632.3(ATP6V0A4):c.737T>A (p.Val246Asp)	ATP6V0A4 (V246D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245946	NM_020632.3(ATP6V0A4):c.723-80C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202774	NM_020632.3(ATP6V0A4):c.723-163C>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225514	NM_020632.3(ATP6V0A4):c.723-281G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224210	NM_020632.3(ATP6V0A4):c.722+271G>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241230	NM_020632.3(ATP6V0A4):c.722+120T>G	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign

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