ATP6V1E1[gene] - ClinVar - NCBI

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	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 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 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 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 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 1524266	NM_001696.4(ATP6V1E1):c.674T>C (p.Leu225Ser)	ATP6V1E1 (L195S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761396	NM_001696.4(ATP6V1E1):c.657T>C (p.Asn219=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977278	NM_001696.4(ATP6V1E1):c.652G>A (p.Ala218Thr)	ATP6V1E1 (A196T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1473600	NM_001696.4(ATP6V1E1):c.619-3C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2831730	NM_001696.4(ATP6V1E1):c.619-9T>C	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943627	NM_001696.4(ATP6V1E1):c.619-15A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3023431	NM_001696.4(ATP6V1E1):c.618+16C>T	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 1904088	NM_001696.4(ATP6V1E1):c.608T>C (p.Ile203Thr)	ATP6V1E1 (I181T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090305	NM_001696.4(ATP6V1E1):c.607A>G (p.Ile203Val)	ATP6V1E1 (I181V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2726210	NM_001696.4(ATP6V1E1):c.563G>A (p.Arg188His)	ATP6V1E1 (R158H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016533	NM_001696.4(ATP6V1E1):c.561T>C (p.Asp187=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071565	NM_001696.4(ATP6V1E1):c.551A>G (p.Tyr184Cys)	ATP6V1E1 (Y162C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1194993	NM_001696.4(ATP6V1E1):c.531-14dup	ATP6V1E1	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 708704	NM_001696.4(ATP6V1E1):c.531-4G>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987321	NM_001696.4(ATP6V1E1):c.531-6_531-5del	ATP6V1E1	Deletion (intron variant)	not provided	GBenign
Select item 1246287	NM_001696.4(ATP6V1E1):c.531-5del	ATP6V1E1	Deletion (intron variant)	not provided	GBenign
Select item 2030906	NM_001696.4(ATP6V1E1):c.531-15C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2798115	NM_001696.4(ATP6V1E1):c.530+16G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2968383	NM_001696.4(ATP6V1E1):c.516C>T (p.Tyr172=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1412133	NM_001696.4(ATP6V1E1):c.484G>A (p.Asp162Asn)	ATP6V1E1 (D132N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991091	NM_001696.4(ATP6V1E1):c.483C>T (p.Asn161=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816344	NM_001696.4(ATP6V1E1):c.477C>T (p.Thr159=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837495	NM_001696.4(ATP6V1E1):c.465C>T (p.Tyr155=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955437	NM_001696.4(ATP6V1E1):c.444G>A (p.Val148=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666061	NM_001696.4(ATP6V1E1):c.444G>C (p.Val148=)	ATP6V1E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415903	NM_001696.4(ATP6V1E1):c.439G>A (p.Ala147Thr)	ATP6V1E1 (A117T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571045	NM_001696.4(ATP6V1E1):c.436-5del	ATP6V1E1	Deletion (intron variant)	not provided	GLikely benign
Select item 2906923	NM_001696.4(ATP6V1E1):c.436-10A>G	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960778	NM_001696.4(ATP6V1E1):c.436-17G>A	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 745375	NM_001696.4(ATP6V1E1):c.435+9C>T	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 2985771	NM_001696.4(ATP6V1E1):c.404G>A (p.Arg135His)	ATP6V1E1 (R113H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 872334	NM_001696.4(ATP6V1E1):c.392G>A (p.Arg131Gln)	ATP6V1E1 (R109Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 417759	NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	ATP6V1E1 (L128P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2C	GPathogenic
Select item 1254864	NM_001696.4(ATP6V1E1):c.382C>G (p.Leu128Val)	ATP6V1E1 (L106V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1633160	NM_001696.4(ATP6V1E1):c.367-4C>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1647859	NM_001696.4(ATP6V1E1):c.367-12del	ATP6V1E1	Deletion (intron variant)	not provided	GLikely benign
Select item 2029122	NM_001696.4(ATP6V1E1):c.367-20G>T	ATP6V1E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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