ClinVar for Gene (Select 535) - ClinVar

Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378207	NM_001130021.3(ATP6V0A1):c.482G>T (p.Gly161Val)	ATP6V0A1 (G101V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377270	NM_001130021.3(ATP6V0A1):c.118-1del	ATP6V0A1	Deletion (splice acceptor variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GLikely pathogenic
Select item 3377259	NM_001130021.3(ATP6V0A1):c.1023G>A (p.Thr341=)	ATP6V0A1	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	GUncertain significance
Select item 3376171	NM_001130021.3(ATP6V0A1):c.1230C>G (p.Phe410Leu)	ATP6V0A1 (F339L +9 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 3371639	NM_001130021.3(ATP6V0A1):c.2203A>G (p.Thr735Ala)	ATP6V0A1 (T653A +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369647	NM_001130021.3(ATP6V0A1):c.1570A>G (p.Ile524Val)	ATP6V0A1 (I442V +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368471	NM_001130021.3(ATP6V0A1):c.1168A>G (p.Asn390Asp)	ATP6V0A1 (N319D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367810	NM_001130021.3(ATP6V0A1):c.1166T>G (p.Ile389Arg)	ATP6V0A1 (I318R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367110	NM_001130021.3(ATP6V0A1):c.1471G>A (p.Glu491Lys)	ATP6V0A1 (E420K +9 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 3365219	NM_001130021.3(ATP6V0A1):c.2438A>C (p.Lys813Thr)	ATP6V0A1 (K731T +28 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361577	NM_001130021.3(ATP6V0A1):c.1355T>G (p.Leu452Trp)	ATP6V0A1 (L381W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356245	NM_001130021.3(ATP6V0A1):c.1697dup (p.Asn567fs)	ATP6V0A1 (N485fs +10 more)	Duplication (frameshift variant)	ATP6V0A1-related condition	GUncertain significance
Select item 3346293	NM_001130021.3(ATP6V0A1):c.1199C>T (p.Pro400Leu)	ATP6V0A1 (P329L +9 more)	Single nucleotide variant (missense variant)	ATP6V0A1-related condition	GUncertain significance
Select item 3342258	NM_001130021.3(ATP6V0A1):c.287A>T (p.Asp96Val)	ATP6V0A1 (D36V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104 +1 more	GUncertain significance
Select item 3338276	NM_001130021.3(ATP6V0A1):c.985G>A (p.Asp329Asn)	ATP6V0A1 (D259N +8 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 3329427	NM_001130021.3(ATP6V0A1):c.536G>A (p.Arg179His)	ATP6V0A1 (R143H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329417	NM_001130021.3(ATP6V0A1):c.377C>A (p.Thr126Asn)	ATP6V0A1 (T66N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329411	NM_001130021.3(ATP6V0A1):c.1841A>G (p.Asn614Ser)	ATP6V0A1 (N561S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329403	NM_001130021.3(ATP6V0A1):c.2435A>G (p.Asn812Ser)	ATP6V0A1 (I756V +28 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3131850	NM_001130021.3(ATP6V0A1):c.976C>T (p.Pro326Ser)	ATP6V0A1 (P326S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131849	NM_001130021.3(ATP6V0A1):c.528C>A (p.Asn176Lys)	ATP6V0A1 (N116K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131848	NM_001130021.3(ATP6V0A1):c.411A>C (p.Gln137His)	ATP6V0A1 (Q77H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131847	NM_001130021.3(ATP6V0A1):c.1979G>A (p.Arg660His)	ATP6V0A1 (R617H +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131846	NM_001130021.3(ATP6V0A1):c.1315A>G (p.Met439Val)	ATP6V0A1 (M446V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131845	NM_001130021.3(ATP6V0A1):c.1286G>A (p.Arg429Gln)	ATP6V0A1 (R369Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131844	NM_001130021.3(ATP6V0A1):c.1269G>A (p.Met423Ile)	ATP6V0A1 (M380I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068939	NM_001130021.3(ATP6V0A1):c.144A>C (p.Gln48His)	ATP6V0A1 (Q48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068292	NM_001130021.3(ATP6V0A1):c.118-2A>G	ATP6V0A1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 104	GLikely pathogenic
Select item 3065920	NM_001130021.3(ATP6V0A1):c.2492G>A (p.Arg831Gln)	ATP6V0A1 (G732R +28 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 3065213	NM_001130021.3(ATP6V0A1):c.1949T>C (p.Met650Thr)	ATP6V0A1 (M568T +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 2921242	NM_001130021.3(ATP6V0A1):c.2112+16G>A	ATP6V0A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2921041	NM_001130021.3(ATP6V0A1):c.2381A>T (p.Glu794Val)	ATP6V0A1 (E717V +22 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2662389	NM_001130021.3(ATP6V0A1):c.181A>G (p.Met61Val)	ATP6V0A1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662317	NM_001130021.3(ATP6V0A1):c.296C>G (p.Ala99Gly)	ATP6V0A1 (A39G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647788	NM_001130021.3(ATP6V0A1):c.1688A>G (p.Lys563Arg)	ATP6V0A1 (K481R +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579380	NM_001130021.3(ATP6V0A1):c.1717A>C (p.Ile573Leu)	ATP6V0A1 (I491L +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579372	NM_001130021.3(ATP6V0A1):c.1508A>G (p.Asn503Ser)	ATP6V0A1 (N432S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574223	NM_001130021.3(ATP6V0A1):c.1483C>T (p.Arg495Trp)	ATP6V0A1 (R424W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504244	NM_001130021.3(ATP6V0A1):c.312T>G (p.Ile104Met)	ATP6V0A1 (I104M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2455028	NM_001130021.3(ATP6V0A1):c.428C>T (p.Ala143Val)	ATP6V0A1 (A83V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398903	NM_001130021.3(ATP6V0A1):c.1879A>G (p.Met627Val)	ATP6V0A1 (M567V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380995	NM_001130021.3(ATP6V0A1):c.2320G>A (p.Val774Met)	ATP6V0A1 (V697M +22 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379421	NM_001130021.3(ATP6V0A1):c.1478C>T (p.Thr493Met)	ATP6V0A1 (T422M +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377682	NM_001130021.3(ATP6V0A1):c.17G>A (p.Arg6Gln)	ATP6V0A1 (R6Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336296	NM_001130021.3(ATP6V0A1):c.2359G>A (p.Val787Met)	ATP6V0A1 (V710M +22 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301326	NM_001130021.3(ATP6V0A1):c.1445G>A (p.Arg482Gln)	ATP6V0A1 (R411Q +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251083	NM_001130021.3(ATP6V0A1):c.1976G>A (p.Arg659His)	ATP6V0A1 (R589H +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224531	NM_001130021.3(ATP6V0A1):c.1115A>G (p.Tyr372Cys)	ATP6V0A1 (Y312C +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212179	NM_001130021.3(ATP6V0A1):c.1963C>T (p.Pro655Ser)	ATP6V0A1 (P612S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1802094	NM_001130021.3(ATP6V0A1):c.574C>T (p.Arg192Trp)	ATP6V0A1 (R132W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801956	NM_001130021.3(ATP6V0A1):c.1231G>A (p.Gly411Ser)	ATP6V0A1 (G340S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801033	NM_001130021.3(ATP6V0A1):c.1669T>C (p.Phe557Leu)	ATP6V0A1 (F475L +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800862	NM_001130021.3(ATP6V0A1):c.1310A>G (p.Asn437Ser)	ATP6V0A1 (N366S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723492	NM_001130021.3(ATP6V0A1):c.593G>A (p.Arg198Gln)	ATP6V0A1 (R138Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708632	NM_001130021.3(ATP6V0A1):c.2155C>T (p.His719Tyr)	ATP6V0A1 (H637Y +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698405	NM_001130021.3(ATP6V0A1):c.445del (p.Glu149fs)	ATP6V0A1 (E106fs +5 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698403	NM_001130021.3(ATP6V0A1):c.2411G>A (p.Arg804His)	ATP6V0A1 (R722H +21 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 104 +1 more	GPathogenic
Select item 1698402	NM_001130021.3(ATP6V0A1):c.1631G>A (p.Gly544Asp)	ATP6V0A1 (G462D +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GPathogenic
Select item 1698401	NM_001130021.3(ATP6V0A1):c.1429T>C (p.Ser477Pro)	ATP6V0A1 (S406P +8 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 104	GPathogenic
Select item 1698400	NM_001130021.3(ATP6V0A1):c.196+1G>A	ATP6V0A1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698399	NM_001130021.3(ATP6V0A1):c.1579A>G (p.Asn527Asp)	ATP6V0A1 (N534D +10 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698398	NC_000017.10:g.40599557_40649783del	ATP6V0A1	Deletion	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698397	NM_001130021.3(ATP6V0A1):c.1513G>C (p.Ala505Pro)	ATP6V0A1 (A512P +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1679785	NM_001130021.3(ATP6V0A1):c.1470-6T>C	ATP6V0A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1679592	NM_001130021.3(ATP6V0A1):c.1649T>C (p.Phe550Ser)	ATP6V0A1 (F468S +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325812	NM_001130021.3(ATP6V0A1):c.53A>T (p.Gln18Leu)	ATP6V0A1 (Q18L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +1 more	GUncertain significance
Select item 691414	NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)	ATP6V0A1 (R447Q +9 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 686402	GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 686203	GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 564446	GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3	HSD17B1, NAGLU +7 more	Copy number gain	not provided	GUncertain significance
Select item 560227	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1 (R741Q +22 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 161630	NM_001130021.3(ATP6V0A1):c.1023+1G>T	ATP6V0A1	Single nucleotide variant (splice donor variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 78