ZYG11B[gene] - ClinVar

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Items: 39

	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 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
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 2513042	NM_024646.3(ZYG11B):c.19G>A (p.Gly7Ser)	LOC129930556, ZYG11B (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199711	NM_024646.3(ZYG11B):c.58G>A (p.Asp20Asn)	ZYG11B (D20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210087	NM_024646.3(ZYG11B):c.82A>G (p.Thr28Ala)	ZYG11B (T28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260224	NM_024646.3(ZYG11B):c.170G>A (p.Arg57Gln)	ZYG11B (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473508	NM_024646.3(ZYG11B):c.296G>A (p.Arg99Gln)	ZYG11B (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199710	NM_024646.3(ZYG11B):c.550T>A (p.Ser184Thr)	ZYG11B (S184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482900	NM_024646.3(ZYG11B):c.583A>G (p.Asn195Asp)	ZYG11B (N195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691311	NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter)	ZYG11B (R210*)	Single nucleotide variant (nonsense)	Craniofacial microsomia 1	GLikely pathogenic
Select item 3199712	NM_024646.3(ZYG11B):c.709A>C (p.Lys237Gln)	ZYG11B (K237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260222	NM_024646.3(ZYG11B):c.774A>C (p.Leu258Phe)	ZYG11B (L258F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286048	NM_024646.3(ZYG11B):c.839C>T (p.Thr280Ile)	ZYG11B (T280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260221	NM_024646.3(ZYG11B):c.857C>A (p.Ala286Asp)	ZYG11B (A286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372882	NM_024646.3(ZYG11B):c.956C>G (p.Ser319Cys)	ZYG11B (S319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465760	NM_024646.3(ZYG11B):c.1070A>G (p.Lys357Arg)	ZYG11B (K357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260225	NM_024646.3(ZYG11B):c.1153G>A (p.Ala385Thr)	ZYG11B (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262462	NM_024646.3(ZYG11B):c.1205G>A (p.Arg402Gln)	ZYG11B (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2400878	NM_024646.3(ZYG11B):c.1589C>T (p.Thr530Ile)	ZYG11B (T530I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060468	NM_024646.3(ZYG11B):c.1696-5dup	ZYG11B	Duplication (intron variant)	ZYG11B-related disorder	GLikely benign
Select item 2553746	NM_024646.3(ZYG11B):c.1823A>G (p.His608Arg)	ZYG11B (H608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260223	NM_024646.3(ZYG11B):c.1865G>A (p.Ser622Asn)	ZYG11B (S622N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529293	NM_024646.3(ZYG11B):c.1983C>G (p.Phe661Leu)	ZYG11B (F661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514639	NM_024646.3(ZYG11B):c.2115A>C (p.Glu705Asp)	ZYG11B (E705D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618833	NM_024646.3(ZYG11B):c.2179G>T (p.Val727Leu)	ZYG11B (V727L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302211	NM_024646.3(ZYG11B):c.2183G>A (p.Arg728His)	ZYG11B (R728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320343	NM_024646.3(ZYG11B):c.2192G>T (p.Arg731Met)	ZYG11B (R731M)	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: 39