27183[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 3332281	NM_013245.3(VPS4A):c.54G>C (p.Glu18Asp)	LOC126862382, VPS4A (E18D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996556	NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	LOC126862382, VPS4A (A28V)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome +1 more	GLikely pathogenic
Select item 3468452	NM_013245.3(VPS4A):c.89G>A (p.Arg30Gln)	LOC126862382, VPS4A (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263353	NM_013245.3(VPS4A):c.97C>G (p.Gln33Glu)	LOC126862382, VPS4A (Q33E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784625	NM_013245.3(VPS4A):c.105G>A (p.Ala35=)	LOC126862382, VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3390071	NM_013245.3(VPS4A):c.120C>G (p.Leu40=)	LOC126862382, VPS4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188982	NM_013245.3(VPS4A):c.122A>G (p.His41Arg)	LOC126862382, VPS4A (H41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675630	NM_013245.3(VPS4A):c.133T>C (p.Tyr45His)	LOC126862382, VPS4A (Y45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246081	NM_013245.3(VPS4A):c.133+13A>C	LOC126862382, VPS4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2252901	NM_013245.3(VPS4A):c.145A>G (p.Ser49Gly)	LOC126862382, VPS4A (S49G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405498	NM_013245.3(VPS4A):c.181G>A (p.Val61Met)	LOC126862382, VPS4A (V61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464668	NM_013245.3(VPS4A):c.262A>G (p.Asn88Asp)	LOC126862382, VPS4A (N88D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067885	NM_013245.3(VPS4A):c.282-1G>A	VPS4A	Single nucleotide variant (splice acceptor variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 3372810	NM_013245.3(VPS4A):c.292G>T (p.Asp98Tyr)	VPS4A (D98Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223523	NM_013245.3(VPS4A):c.344-4G>A	VPS4A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3368966	NM_013245.3(VPS4A):c.346G>A (p.Ala116Thr)	VPS4A (A116T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2594373	NM_013245.3(VPS4A):c.349G>A (p.Val117Ile)	VPS4A (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3043933	NM_013245.3(VPS4A):c.354G>A (p.Val118=)	VPS4A	Single nucleotide variant (synonymous variant)	VPS4A-related disorder	GLikely benign
Select item 3188983	NM_013245.3(VPS4A):c.373C>T (p.Arg125Trp)	VPS4A (R125W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646668	NM_013245.3(VPS4A):c.390C>T (p.Ala130=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234658	NM_013245.3(VPS4A):c.399G>A (p.Glu133=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2633333	NM_013245.3(VPS4A):c.401G>T (p.Gly134Val)	VPS4A (G134V)	Single nucleotide variant (missense variant)	VPS4A-related disorder	GUncertain significance
Select item 1335218	NM_013245.3(VPS4A):c.418A>G (p.Lys140Glu)	VPS4A (K140E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505936	NM_013245.3(VPS4A):c.475C>T (p.Pro159Ser)	VPS4A (P159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580661	NM_013245.3(VPS4A):c.499G>C (p.Gly167Arg)	VPS4A (G167R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3393428	NM_013245.3(VPS4A):c.538G>A (p.Val180Met)	VPS4A (V180M)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 808064	NM_013245.3(VPS4A):c.598A>G (p.Lys200Glu)	VPS4A (K200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709093	NM_013245.3(VPS4A):c.605T>C (p.Leu202Pro)	VPS4A (L202P)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 996555	NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu)	VPS4A (G203E)	Single nucleotide variant (missense variant)	Syndromic congenital hemolytic and dyserythropoietic anemia	GPathogenic
Select item 976852	NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	VPS4A (E206K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2646669	NM_013245.3(VPS4A):c.651G>A (p.Arg217=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1397484	NM_013245.3(VPS4A):c.706C>T (p.Arg236Ter)	VPS4A (R236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2646670	NM_013245.3(VPS4A):c.711T>C (p.Asn237=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3375862	NM_013245.3(VPS4A):c.716A>G (p.Asn239Ser)	VPS4A (N239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377332	NM_013245.3(VPS4A):c.719_722del (p.Glu240fs)	VPS4A (E240fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2637700	NM_013245.3(VPS4A):c.769+3G>A	VPS4A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3344322	NM_013245.2(VPS4A):c.850_851+1delAGG	VPS4A	Microsatellite	VPS4A-related disorder	GUncertain significance
Select item 976851	NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	VPS4A (R284G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 976850	NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	VPS4A (R284W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3370899	NM_013245.3(VPS4A):c.862C>T (p.Arg288Ter)	VPS4A (R288*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1806543	NM_013245.3(VPS4A):c.901C>T (p.Gln301Ter)	VPS4A (Q301*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2464536	NM_013245.3(VPS4A):c.911G>A (p.Arg304Gln)	VPS4A (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2443496	NM_013245.3(VPS4A):c.943A>G (p.Thr315Ala)	VPS4A (T315A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671748	NM_013245.3(VPS4A):c.944C>T (p.Thr315Met)	VPS4A (T315M)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 2646671	NM_013245.3(VPS4A):c.960C>T (p.His320=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3468453	NM_013245.3(VPS4A):c.977C>T (p.Thr326Met)	VPS4A (T326M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573854	NM_013245.3(VPS4A):c.997G>A (p.Asp333Asn)	VPS4A (D333N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332279	NM_013245.3(VPS4A):c.1020C>G (p.Asp340Glu)	VPS4A (D340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282532	NM_013245.3(VPS4A):c.1055C>T (p.Ala352Val)	VPS4A (A352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506797	NM_013245.3(VPS4A):c.1070A>T (p.Lys357Met)	VPS4A (K357M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332280	NM_013245.3(VPS4A):c.1072G>C (p.Val358Leu)	VPS4A (V358L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332282	NM_013245.3(VPS4A):c.1073T>C (p.Val358Ala)	VPS4A (V358A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513326	NM_013245.3(VPS4A):c.1082C>A (p.Pro361His)	VPS4A (P361H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1213785	NM_013245.3(VPS4A):c.1107G>A (p.Met369Ile)	VPS4A (M369I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054706	NM_013245.3(VPS4A):c.1109T>C (p.Ile370Thr)	VPS4A (I370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2342081	NM_013245.3(VPS4A):c.1154T>C (p.Met385Thr)	VPS4A (M385T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188981	NM_013245.3(VPS4A):c.1160T>G (p.Met387Arg)	VPS4A (M387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3346667	NM_013245.3(VPS4A):c.1184del (p.Asp395fs)	VPS4A (D395fs)	Deletion (frameshift variant)	VPS4A-related disorder	GUncertain significance
Select item 2459902	NM_013245.3(VPS4A):c.1193T>C (p.Leu398Ser)	VPS4A (L398S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332278	NM_013245.3(VPS4A):c.1219A>G (p.Met407Val)	VPS4A (M407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582201	NM_013245.3(VPS4A):c.1226G>T (p.Arg409Leu)	VPS4A (R409L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690442	NM_013245.3(VPS4A):c.1232T>C (p.Leu411Pro)	VPS4A (L411P)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 2662376	NM_013245.3(VPS4A):c.1261G>C (p.Asp421His)	VPS4A (D421H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573908	NM_013245.3(VPS4A):c.1294G>A (p.Asp432Asn)	VPS4A (D432N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391808	NM_013245.3(VPS4A):c.1308G>C (p.Glu436Asp)	VPS4A (E436D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3391857	GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 3361620	NM_013245.3(VPS4A):c.117C>A (p.Phe39Leu)	VPS4A (F39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361312	NM_013245.3(VPS4A):c.980A>G (p.Glu327Gly)	VPS4A (E327G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 100