"GeneDx"[submitter] AND "ATP6V1E1"[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 1235788	NM_001696.4(ATP6V1E1):c.*177A>G	ATP6V1E1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1265675	NM_001696.4(ATP6V1E1):c.*23C>T	ATP6V1E1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 417760	NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	ATP6V1E1 (R212W +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 1187012	NM_001696.4(ATP6V1E1):c.619-30T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289204	NM_001696.4(ATP6V1E1):c.619-84_619-81dup	ATP6V1E1	Duplication (intron variant)	not provided	GBenign
Select item 1200279	NM_001696.4(ATP6V1E1):c.619-84_619-83dup	ATP6V1E1	Duplication (intron variant)	not provided	GLikely benign
Select item 1197687	NM_001696.4(ATP6V1E1):c.619-84dup	ATP6V1E1	Duplication (intron variant)	not provided	GLikely benign
Select item 1256752	NM_001696.4(ATP6V1E1):c.619-65del	ATP6V1E1	Deletion (intron variant)	not provided	GBenign
Select item 1188382	NM_001696.4(ATP6V1E1):c.619-152G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243718	NM_001696.4(ATP6V1E1):c.619-184A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200648	NM_001696.4(ATP6V1E1):c.619-209C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178389	NM_001696.4(ATP6V1E1):c.619-245C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214077	NM_001696.4(ATP6V1E1):c.619-262G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240887	NM_001696.4(ATP6V1E1):c.618+15A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1915828	NM_001696.4(ATP6V1E1):c.592A>T (p.Ser198Cys)	ATP6V1E1 (S168C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278502	NM_001696.4(ATP6V1E1):c.579C>T (p.Ser193=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1314350	NM_001696.4(ATP6V1E1):c.578C>G (p.Ser193Cys)	ATP6V1E1 (S163C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194993	NM_001696.4(ATP6V1E1):c.531-14dup	ATP6V1E1	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1246287	NM_001696.4(ATP6V1E1):c.531-5del	ATP6V1E1	Deletion (intron variant)	not provided	GBenign
Select item 1264265	NM_001696.4(ATP6V1E1):c.531-61G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210840	NM_001696.4(ATP6V1E1):c.531-161C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222470	NM_001696.4(ATP6V1E1):c.531-258A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291672	NM_001696.4(ATP6V1E1):c.530+237C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175641	NM_001696.4(ATP6V1E1):c.530+228G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183873	NM_001696.4(ATP6V1E1):c.530+130A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789862	NM_001696.4(ATP6V1E1):c.528C>T (p.Asp176=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1314574	NM_001696.4(ATP6V1E1):c.514T>C (p.Tyr172His)	ATP6V1E1 (Y142H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378033	NM_001696.4(ATP6V1E1):c.479A>G (p.Lys160Arg)	ATP6V1E1 (K130R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289328	NM_001696.4(ATP6V1E1):c.436-39G>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286075	NM_001696.4(ATP6V1E1):c.436-82C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287726	NM_001696.4(ATP6V1E1):c.436-102C>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178847	NM_001696.4(ATP6V1E1):c.436-296A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296661	NM_001696.4(ATP6V1E1):c.435+191T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208297	NM_001696.4(ATP6V1E1):c.435+178G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203704	NM_001696.4(ATP6V1E1):c.435+144C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221781	NM_001696.4(ATP6V1E1):c.435+124T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276973	NM_001696.4(ATP6V1E1):c.435+94dup	ATP6V1E1	Duplication (intron variant)	not provided	GBenign
Select item 1255323	NM_001696.4(ATP6V1E1):c.435+85T>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209425	NM_001696.4(ATP6V1E1):c.435+59C>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209436	NM_001696.4(ATP6V1E1):c.435G>A (p.Lys145=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1187239	NM_001696.4(ATP6V1E1):c.412A>C (p.Lys138Gln)	ATP6V1E1 (K108Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254699	NM_001696.4(ATP6V1E1):c.405T>C (p.Arg135=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307660	NM_001696.4(ATP6V1E1):c.403C>T (p.Arg135Cys)	ATP6V1E1 (R105C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254864	NM_001696.4(ATP6V1E1):c.382C>G (p.Leu128Val)	ATP6V1E1 (L106V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279310	NM_001696.4(ATP6V1E1):c.367-138C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198999	NM_001696.4(ATP6V1E1):c.367-200C>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269939	NM_001696.4(ATP6V1E1):c.367-306G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181305	NM_001696.4(ATP6V1E1):c.366+267A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289161	NM_001696.4(ATP6V1E1):c.366+121C>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215800	NM_001696.4(ATP6V1E1):c.277-32T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289740	NM_001696.4(ATP6V1E1):c.277-54=	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233847	NM_001696.4(ATP6V1E1):c.277-86G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214700	NM_001696.4(ATP6V1E1):c.277-225T>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287575	NM_001696.4(ATP6V1E1):c.276+266G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236524	NM_001696.4(ATP6V1E1):c.276+139C>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782932	NM_001696.4(ATP6V1E1):c.245A>G (p.Lys82Arg)	ATP6V1E1 (K60R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 710162	NM_001696.4(ATP6V1E1):c.237G>A (p.Ala79=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1276132	NM_001696.4(ATP6V1E1):c.210-90G>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253064	NM_001696.4(ATP6V1E1):c.209+139T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282466	NM_001696.4(ATP6V1E1):c.209+98G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247253	NM_001696.4(ATP6V1E1):c.209+76A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194438	NM_001696.4(ATP6V1E1):c.209+58C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216385	NM_001696.4(ATP6V1E1):c.192T>A (p.Ile64=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1307105	NM_001696.4(ATP6V1E1):c.188A>T (p.Gln63Leu)	ATP6V1E1 (Q41L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238492	NM_001696.4(ATP6V1E1):c.100-113C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191599	NM_001696.4(ATP6V1E1):c.100-211G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199545	NM_001696.4(ATP6V1E1):c.100-291_100-246del	ATP6V1E1	Deletion (intron variant)	not provided	GLikely benign
Select item 1261501	NM_001696.4(ATP6V1E1):c.100-292C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275010	NM_001696.4(ATP6V1E1):c.99+266C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246683	NM_001696.4(ATP6V1E1):c.99+215G>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209026	NM_001696.4(ATP6V1E1):c.34-19A>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1193166	NM_001696.4(ATP6V1E1):c.34-40A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230949	NM_001696.4(ATP6V1E1):c.34-101G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217890	NM_001696.4(ATP6V1E1):c.34-206T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229507	NM_001696.4(ATP6V1E1):c.33+269C>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488967	NM_001696.4(ATP6V1E1):c.1A>G (p.Met1Val)	ATP6V1E1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1297804	NM_001696.4(ATP6V1E1):c.-30A>G	ATP6V1E1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1187169	NM_001696.4(ATP6V1E1):c.-35A>G	ATP6V1E1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1214363	NM_001696.4(ATP6V1E1):c.-44C>T	ATP6V1E1, LOC130066912	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1198264	NM_001696.4(ATP6V1E1):c.-79C>T	ATP6V1E1, LOC130066912	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1186344	NM_001696.3(ATP6V1E1):c.-117G>A	ATP6V1E1, LOC130066912	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1247330	NM_001696.3(ATP6V1E1):c.-155T>G	ATP6V1E1, LOC130066912	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1253201	NC_000022.11:g.17629002T>C	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 1193481	NC_000022.11:g.17629043A>G	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GLikely benign
Select item 1246668	NC_000022.11:g.17629076T>C	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 1274797	NC_000022.11:g.17629087C>A	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic
Select item 3361064	NM_001696.4(ATP6V1E1):c.500T>C (p.Ile167Thr)	ATP6V1E1 (I137T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 94