ATP6V1B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1286137	NC_000002.12:g.70935643C>T	ATP6V1B1	Single nucleotide variant	not provided	GBenign
Select item 1186532	NC_000002.12:g.70935796G>C	ATP6V1B1	Single nucleotide variant	not provided	GLikely benign
Select item 1221522	NC_000002.12:g.70935800A>G	ATP6V1B1	Single nucleotide variant	not provided	GBenign
Select item 369346	NM_001692.4(ATP6V1B1):c.-89A>G	ATP6V1B1	Single nucleotide variant	Renal tubular acidosis with progressive nerve deafness +1 more	GBenign
Select item 336915	NM_001692.4(ATP6V1B1):c.-34C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GBenign
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 336916	NM_001692.4(ATP6V1B1):c.-17C>T	ATP6V1B1	Single nucleotide variant (5 prime UTR variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
Select item 957463	NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu)	ATP6V1B1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 44228	NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr)	ATP6V1B1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 3340651	NM_001692.4(ATP6V1B1):c.3G>A (p.Met1Ile)	ATP6V1B1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210757	NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser)	ATP6V1B1 (A2S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 228447	NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp)	ATP6V1B1 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2819343	NM_001692.4(ATP6V1B1):c.6C>G (p.Ala2=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	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 1801127	NM_001692.4(ATP6V1B1):c.18C>G (p.Asp6Glu)	ATP6V1B1 (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1118279	NM_001692.4(ATP6V1B1):c.18C>T (p.Asp6=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899094	NM_001692.4(ATP6V1B1):c.27del (p.Leu12fs)	ATP6V1B1 (L12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1458122	NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs)	ATP6V1B1 (L12fs)	Duplication (frameshift variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GPathogenic
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 44227	NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GBenign
Select item 936069	NM_001692.4(ATP6V1B1):c.33del (p.Leu12fs)	ATP6V1B1 (L12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2651016	NM_001692.4(ATP6V1B1):c.30G>A (p.Gly10=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654381	NM_001692.4(ATP6V1B1):c.33G>A (p.Gly11=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 336917	NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GConflicting classifications of pathogenicity
Select item 2828893	NM_001692.4(ATP6V1B1):c.36C>T (p.Leu12=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086864	NM_001692.4(ATP6V1B1):c.36C>A (p.Leu12=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118801	NM_001692.4(ATP6V1B1):c.39C>T (p.Pro13=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304137	NM_001692.4(ATP6V1B1):c.40G>C (p.Gly14Arg)	ATP6V1B1 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761407	NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)	ATP6V1B1 (G14S)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +2 more	GBenign/Likely benign
Select item 2482786	NM_001692.4(ATP6V1B1):c.41G>C (p.Gly14Ala)	ATP6V1B1 (G14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2915840	NM_001692.4(ATP6V1B1):c.42C>T (p.Gly14=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	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 2901847	NM_001692.4(ATP6V1B1):c.48C>T (p.Ser16=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776362	NM_001692.4(ATP6V1B1):c.57A>T (p.Leu19=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701804	NM_001692.4(ATP6V1B1):c.60T>C (p.Gly20=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2265982	NM_001692.4(ATP6V1B1):c.68G>A (p.Arg23Gln)	ATP6V1B1 (R23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183559	NM_001692.4(ATP6V1B1):c.72A>G (p.Glu24=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135813	NM_001692.4(ATP6V1B1):c.75C>T (p.His25=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074560	NM_001692.4(ATP6V1B1):c.76A>G (p.Met26Val)	ATP6V1B1 (M26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 227184	NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)	ATP6V1B1 (M26T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988216	NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)	ATP6V1B1 (Q27*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1577999	NM_001692.4(ATP6V1B1):c.81G>A (p.Gln27=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131897	NM_001692.4(ATP6V1B1):c.83C>T (p.Ala28Val)	ATP6V1B1 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 794261	NM_001692.4(ATP6V1B1):c.84G>A (p.Ala28=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44231	NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)	ATP6V1B1 (T30I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 12225	NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter)	ATP6V1B1 (R31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1085586	NM_001692.4(ATP6V1B1):c.93A>C (p.Arg31=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095796	NM_001692.4(ATP6V1B1):c.96C>T (p.Asn32=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1087209	NM_001692.4(ATP6V1B1):c.99C>T (p.Tyr33=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815800	NM_001692.4(ATP6V1B1):c.105C>T (p.Thr35=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847265	NM_001692.4(ATP6V1B1):c.112dup (p.Arg38fs)	ATP6V1B1 (R38fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1917053	NM_001692.4(ATP6V1B1):c.111C>G (p.Pro37=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 895245	NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys)	ATP6V1B1 (R38C)	Single nucleotide variant (missense variant)	ATP6V1B1-related disorder +3 more	GUncertain significance
Select item 1065019	NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His)	ATP6V1B1 (R38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2795338	NM_001692.4(ATP6V1B1):c.114T>C (p.Arg38=)	ATP6V1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010101	NM_001692.4(ATP6V1B1):c.118+1_118+22del	ATP6V1B1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1474429	NM_001692.4(ATP6V1B1):c.118+1G>C	ATP6V1B1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1943589	NM_001692.4(ATP6V1B1):c.118+7A>G	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027739	NM_001692.4(ATP6V1B1):c.118+8G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141831	NM_001692.4(ATP6V1B1):c.118+9C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755124	NM_001692.4(ATP6V1B1):c.118+9C>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 765458	NM_001692.4(ATP6V1B1):c.118+10C>T	ATP6V1B1	Single nucleotide variant (intron variant)	Renal tubular acidosis with progressive nerve deafness +1 more	GLikely benign
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 2155766	NM_001692.4(ATP6V1B1):c.118+19G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179593	NM_001692.4(ATP6V1B1):c.118+23C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682700	NM_001692.4(ATP6V1B1):c.118+75G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174338	NM_001692.4(ATP6V1B1):c.118+148C>T	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252894	NM_001692.4(ATP6V1B1):c.118+188G>A	ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205603	NM_001692.4(ATP6V1B1):c.119-260_119-258del	ATP6V1B1, ATP6V1B1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211479	NM_001692.4(ATP6V1B1):c.119-257_119-256insAG	ATP6V1B1, ATP6V1B1-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1211998	NM_001692.4(ATP6V1B1):c.119-253C>T	ATP6V1B1-AS1, ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247280	NM_001692.4(ATP6V1B1):c.119-220C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191804	NM_001692.4(ATP6V1B1):c.119-119C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274062	NM_001692.4(ATP6V1B1):c.119-89GA[2]	ATP6V1B1, ATP6V1B1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1212159	NM_001692.4(ATP6V1B1):c.119-28C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2201025	NM_001692.4(ATP6V1B1):c.119-20C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880628	NM_001692.4(ATP6V1B1):c.119-14del	ATP6V1B1, ATP6V1B1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2739532	NM_001692.4(ATP6V1B1):c.119-14C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918855	NM_001692.4(ATP6V1B1):c.119-13G>A	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561145	NM_001692.4(ATP6V1B1):c.119-13G>C	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336918	NM_001692.4(ATP6V1B1):c.119-10C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2771185	NM_001692.4(ATP6V1B1):c.119-7C>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002258	NM_001692.4(ATP6V1B1):c.119-5C>A	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1088882	NM_001692.4(ATP6V1B1):c.119-5C>T	ATP6V1B1-AS1, ATP6V1B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 641262	NM_001692.4(ATP6V1B1):c.119-1G>T	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1452175	NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter)	ATP6V1B1, ATP6V1B1-AS1 (Y41*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1127331	NM_001692.4(ATP6V1B1):c.123C>T (p.Tyr41=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358912	NM_001692.4(ATP6V1B1):c.130G>T (p.Val44Leu)	ATP6V1B1, ATP6V1B1-AS1 (V44L)	Single nucleotide variant (missense variant)	not provided	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 44225	NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 162759	NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2080738	NM_001692.4(ATP6V1B1):c.145G>A (p.Gly49Arg)	ATP6V1B1, ATP6V1B1-AS1 (G49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1100121	NM_001692.4(ATP6V1B1):c.147G>A (p.Gly49=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843295	NM_001692.4(ATP6V1B1):c.150C>A (p.Pro50=)	ATP6V1B1, ATP6V1B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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