865[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1679785	NM_001130021.3(ATP6V0A1):c.1470-6T>C	ATP6V0A1	Single nucleotide variant (intron variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2921242	NM_001130021.3(ATP6V0A1):c.2112+16G>A	ATP6V0A1	Single nucleotide variant (intron variant)	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 560227	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1 (R741Q +22 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GPathogenic/Likely pathogenic
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 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 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 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 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 1698398	NC_000017.10:g.40599557_40649783del	ATP6V0A1	Deletion	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
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 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 58