ZYG11A[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 2344637	NM_001004339.3(ZYG11A):c.20C>T (p.Pro7Leu)	ZYG11A (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605513	NM_001004339.3(ZYG11A):c.31C>G (p.Pro11Ala)	ZYG11A (P11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273117	NM_001004339.3(ZYG11A):c.67G>C (p.Ala23Pro)	ZYG11A (A23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199707	NM_001004339.3(ZYG11A):c.88C>G (p.Gln30Glu)	ZYG11A (Q30E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232662	NM_001004339.3(ZYG11A):c.208T>G (p.Phe70Val)	ZYG11A (F70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787746	NM_001004339.3(ZYG11A):c.371G>A (p.Arg124His)	ZYG11A (R124H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2612087	NM_001004339.3(ZYG11A):c.491A>C (p.Asp164Ala)	ZYG11A (D164A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260214	NM_001004339.3(ZYG11A):c.545G>C (p.Gly182Ala)	ZYG11A (G182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199705	NM_001004339.3(ZYG11A):c.569A>T (p.Asn190Ile)	ZYG11A (N190I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199706	NM_001004339.3(ZYG11A):c.640A>G (p.Asn214Asp)	ZYG11A (N214D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599861	NM_001004339.3(ZYG11A):c.665C>T (p.Ala222Val)	ZYG11A (A222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547791	NM_001004339.3(ZYG11A):c.781C>T (p.Leu261Phe)	ZYG11A (L261F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260218	NM_001004339.3(ZYG11A):c.784G>T (p.Asp262Tyr)	ZYG11A (D262Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377554	NM_001004339.3(ZYG11A):c.809A>C (p.Lys270Thr)	ZYG11A (K270T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260212	NM_001004339.3(ZYG11A):c.928C>T (p.Arg310Trp)	ZYG11A (R310W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199708	NM_001004339.3(ZYG11A):c.932C>T (p.Pro311Leu)	ZYG11A (P311L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199709	NM_001004339.3(ZYG11A):c.962C>T (p.Thr321Met)	ZYG11A (T321M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236092	NM_001004339.3(ZYG11A):c.979G>C (p.Asp327His)	ZYG11A (D327H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260213	NM_001004339.3(ZYG11A):c.982T>G (p.Phe328Val)	ZYG11A (F328V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260217	NM_001004339.3(ZYG11A):c.1105A>G (p.Thr369Ala)	ZYG11A (T369A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199704	NM_001004339.3(ZYG11A):c.1120A>G (p.Met374Val)	ZYG11A (M32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260219	NM_001004339.3(ZYG11A):c.1129A>G (p.Thr377Ala)	ZYG11A (T377A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592677	NM_001004339.3(ZYG11A):c.1205C>T (p.Ala402Val)	ZYG11A (A402V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260220	NM_001004339.3(ZYG11A):c.1219C>G (p.Leu407Val)	ZYG11A (L407V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350739	NM_001004339.3(ZYG11A):c.1248G>C (p.Lys416Asn)	ZYG11A (K74N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212501	NM_001004339.3(ZYG11A):c.1255C>A (p.Pro419Thr)	ZYG11A (P419T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260215	NM_001004339.3(ZYG11A):c.1400C>T (p.Ala467Val)	ZYG11A (A467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519577	NM_001004339.3(ZYG11A):c.1439A>G (p.Asn480Ser)	ZYG11A (N138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548309	NM_001004339.3(ZYG11A):c.1508C>T (p.Thr503Met)	ZYG11A (T503M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296353	NM_001004339.3(ZYG11A):c.1537G>T (p.Val513Phe)	ZYG11A (V171F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308365	NM_001004339.3(ZYG11A):c.1588G>A (p.Asp530Asn)	ZYG11A (D188N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244839	NM_001004339.3(ZYG11A):c.1591G>T (p.Val531Phe)	ZYG11A (V189F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326589	NM_001004339.3(ZYG11A):c.1642C>T (p.Pro548Ser)	ZYG11A (P206S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385156	NM_001004339.3(ZYG11A):c.1664T>C (p.Ile555Thr)	ZYG11A (I555T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055406	NM_001004339.3(ZYG11A):c.1691T>C (p.Ile564Thr)	ZYG11A (I564T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482144	NM_001004339.3(ZYG11A):c.1735G>A (p.Val579Ile)	ZYG11A (V579I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507479	NM_001004339.3(ZYG11A):c.1784A>G (p.Lys595Arg)	ZYG11A (K595R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370137	NM_001004339.3(ZYG11A):c.1804C>G (p.Leu602Val)	ZYG11A (L602V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277515	NM_001004339.3(ZYG11A):c.1844A>T (p.Glu615Val)	ZYG11A (E615V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264002	NM_001004339.3(ZYG11A):c.1877A>T (p.His626Leu)	ZYG11A (H284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341342	NM_001004339.3(ZYG11A):c.1910G>T (p.Arg637Leu)	ZYG11A (R295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237029	NM_001004339.3(ZYG11A):c.1925G>T (p.Arg642Leu)	ZYG11A (R642L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208194	NM_001004339.3(ZYG11A):c.1925G>A (p.Arg642His)	ZYG11A (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260216	NM_001004339.3(ZYG11A):c.1952C>A (p.Thr651Asn)	ZYG11A (T309N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204038	NM_001004339.3(ZYG11A):c.1984A>G (p.Met662Val)	ZYG11A (M662V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462256	NM_001004339.3(ZYG11A):c.2154G>T (p.Leu718Phe)	ZYG11A (L376F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528017	NM_001004339.3(ZYG11A):c.2173A>C (p.Ser725Arg)	ZYG11A (S725R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402770	NM_001004339.3(ZYG11A):c.2191G>A (p.Ala731Thr)	ZYG11A (A731T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508133	NM_001004339.3(ZYG11A):c.2240T>C (p.Met747Thr)	ZYG11A (M405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377670	NM_001004339.3(ZYG11A):c.2241G>A (p.Met747Ile)	ZYG11A (M747I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389355	NM_001004339.3(ZYG11A):c.2268A>T (p.Gln756His)	ZYG11A (Q414H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685805	GRCh37/hg19 1p32.3(chr1:53225500-53499298)x3	SCP2, ZYG11A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1374246	NC_000001.10:g.(?_53153392)_(53493763_?)dup	COA7, ECHDC2 +3 more	Duplication	not provided	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565097	GRCh37/hg19 1p32.3(chr1:53120178-53330882)x1	ZYG11A, SHISAL2A +2 more	Copy number loss	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 64