ClinVar for MedGen (Select 98336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256891	NM_001692.4(ATP6V1B1):c.574C>A (p.Pro192Thr)	ATP6V1B1 (P192T)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 3250389	NM_001692.4(ATP6V1B1):c.319G>A (p.Glu107Lys)	ATP6V1B1 (E107K)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 3236100	NM_001692.4(ATP6V1B1):c.1180C>G (p.Arg394Gly)	ATP6V1B1 (R394G)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 3066305	NM_001692.4(ATP6V1B1):c.938G>A (p.Gly313Glu)	ATP6V1B1 (G313E)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 3066251	NM_001692.4(ATP6V1B1):c.1341dup (p.Phe448fs)	ATP6V1B1 (F448fs)	Duplication (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 3066230	NM_001692.4(ATP6V1B1):c.893dup (p.Glu299fs)	ATP6V1B1 (E299fs)	Duplication (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GPathogenic
Select item 2627496	NM_001692.4(ATP6V1B1):c.611C>A (p.Ala204Glu)	ATP6V1B1 (A204E)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 2585412	NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)	ATP6V1B1 (K135*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 2585130	NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)	ATP6V1B1 (Q181*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 2501126	NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)	ATP6V1B1 (Q150*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2501125	NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)	ATP6V1B1 (T96fs)	Deletion (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 2439389	NM_001692.4(ATP6V1B1):c.174+415G>A	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 2439388	NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)	ATP6V1B1 (E368K)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 2203081	NM_001692.4(ATP6V1B1):c.687+1G>T	ATP6V1B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1806126	NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)	ATP6V1B1 (T115fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1804732	NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)	ATP6V1B1 (V335fs)	Indel (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 1683918	NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln)	ATP6V1B1, ATP6V1B1-AS1 (K58Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1677023	NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)	ATP6V1B1, ATP6V1B1-AS1 (S46fs)	Deletion (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 1607602	NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1573901	NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1555944	NM_001692.4(ATP6V1B1):c.367+20A>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1499499	NM_001692.4(ATP6V1B1):c.273+2T>A	ATP6V1B1	Single nucleotide variant (splice donor variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GLikely pathogenic
Select item 1493614	NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His)	ATP6V1B1 (R202H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1458465	NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs)	ATP6V1B1 (Y420fs)	Duplication (frameshift variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 1458122	NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs)	ATP6V1B1 (L12fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1444076	NM_001692.4(ATP6V1B1):c.1121A>G (p.Asp374Gly)	ATP6V1B1 (D374G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432782	NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys)	ATP6V1B1 (R270C)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GUncertain significance
Select item 1429399	NM_001692.4(ATP6V1B1):c.940C>T (p.Arg314Cys)	ATP6V1B1 (R314C)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 1343089	NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn)	ATP6V1B1 (D354N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1339452	NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn)	ATP6V1B1 (K483N)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GLikely pathogenic
Select item 1339007	NM_001692.4(ATP6V1B1):c.806C>A (p.Pro269Gln)	ATP6V1B1 (P269Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 1329994	NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter)	ATP6V1B1 (E309*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness	GPathogenic
Select item 1323856	NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter)	ATP6V1B1 (R23*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 1313362	NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val)	ATP6V1B1 (I171V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1312811	NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg)	ATP6V1B1 (G410R)	Single nucleotide variant (missense variant)	ATP6V1B1-related disorder +2 more	GUncertain significance
Select item 1254479	NM_001692.4(ATP6V1B1):c.752T>G (p.Val251Gly)	ATP6V1B1 (V251G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210757	NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser)	ATP6V1B1 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1187290	NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile)	ATP6V1B1 (V173I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185142	NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del)	ATP6V1B1	Deletion (inframe_deletion)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 1184744	NM_001692.4(ATP6V1B1):c.1249-89C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184743	NM_001692.4(ATP6V1B1):c.1060+103G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184742	NM_001692.4(ATP6V1B1):c.586-140G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184741	NM_001692.4(ATP6V1B1):c.274-72A>C	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1159850	NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1157646	NM_001692.4(ATP6V1B1):c.585+7C>G	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1156743	NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1153257	NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1153247	NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1143994	NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1120064	NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile)	ATP6V1B1 (V224I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1112341	NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 1111351	NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1071558	NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs)	ATP6V1B1 (F468fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1065019	NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His)	ATP6V1B1 (R38H)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 1061934	NM_001692.4(ATP6V1B1):c.538G>A (p.Gly180Ser)	ATP6V1B1 (G180S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991647	NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991646	NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr)	ATP6V1B1 (I489T)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991645	NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His)	ATP6V1B1 (R479H)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991644	NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser)	ATP6V1B1 (N458S)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991643	NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met)	ATP6V1B1 (V311M)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991642	NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)	ATP6V1B1 (R179C)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 991641	NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn)	ATP6V1B1 (D100N)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 991640	NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975088	NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)	ATP6V1B1 (Q61fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 966948	NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys)	ATP6V1B1 (N387K)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 966396	NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)	ATP6V1B1 (L12fs)	Indel (frameshift variant)	Renal tubular acidosis with progressive nerve deafness	GPathogenic/Likely pathogenic
Select item 958554	NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs)	ATP6V1B1 (V335fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 957463	NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu)	ATP6V1B1 (M1L)	Single nucleotide variant (missense variant +1 more)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 953951	NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs)	ATP6V1B1 (I386fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 898297	NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly)	ATP6V1B1 (D442G)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 898296	NM_001692.4(ATP6V1B1):c.1249-11C>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 898295	NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr)	ATP6V1B1 (I400T)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GUncertain significance
Select item 898294	NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 897131	NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 896674	NM_001692.4(ATP6V1B1):c.687+9A>G	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 896673	NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 895309	NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala)	ATP6V1B1 (V493A)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 895245	NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys)	ATP6V1B1 (R38C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 895244	NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 862369	NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr)	ATP6V1B1 (I171T)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GUncertain significance
Select item 862368	NM_001692.4(ATP6V1B1):c.1178C>G (p.Ser393Trp)	ATP6V1B1 (S393W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850234	NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)	ATP6V1B1 (R157C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 848844	NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)	ATP6V1B1 (F452fs)	Deletion (frameshift variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
Select item 801719	NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)	ATP6V1B1 (Y462*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic/Likely pathogenic
Select item 794520	NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 777948	NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765458	NM_001692.4(ATP6V1B1):c.118+10C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 761407	NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)	ATP6V1B1 (G14S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 738687	NM_001692.4(ATP6V1B1):c.1378+10G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 734386	NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 732456	NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726672	NM_001692.4(ATP6V1B1):c.367+10A>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 684162	NM_001692.4(ATP6V1B1):c.-19C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 682699	NM_001692.4(ATP6V1B1):c.118+18C>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GBenign/Likely benign
Select item 638431	NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)	ATP6V1B1 (R114Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GUncertain significance
Select item 635435	NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del)	ATP6V1B1 (E162del)	Microsatellite (inframe_deletion)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 632363	NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter)	ATP6V1B1 (Q61*)	Single nucleotide variant (nonsense)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 596470	NM_001692.4(ATP6V1B1):c.1483G>T (p.Asp495Tyr)	ATP6V1B1 (D495Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562411	NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)	ATP6V1B1 (T166fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 555327	NM_001692.4(ATP6V1B1):c.1248+1G>C	ATP6V1B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic

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