"Genome-Nilou Lab"[submitter] AND "POGZ"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1278768	NM_015100.4(POGZ):c.*30A>G	POGZ	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 589756	NM_015100.4(POGZ):c.4206A>T (p.Glu1402Asp)	POGZ (E1402D +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1803366	NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)	POGZ (E1294Q +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 589543	NM_015100.4(POGZ):c.4104T>A (p.Thr1368=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587824	NM_015100.4(POGZ):c.4104T>G (p.Thr1368=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 587845	NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp)	POGZ (E1365D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 445612	NM_015100.4(POGZ):c.4089T>G (p.His1363Gln)	POGZ (H1363Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2079158	NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)	POGZ (N1247K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 587883	NM_015100.4(POGZ):c.3863C>T (p.Ala1288Val)	POGZ (A1288V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GLikely benign
Select item 560559	NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys)	POGZ (E1203K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224726	NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	POGZ (E1145fs +4 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 801544	NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)	POGZ (R1047* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 588795	NM_015100.4(POGZ):c.3297G>A (p.Glu1099=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 751995	NM_015100.4(POGZ):c.3279A>T (p.Leu1093=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GBenign/Likely benign
Select item 252690	NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)	POGZ (R1087* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GPathogenic/Likely pathogenic
Select item 587987	NM_015100.4(POGZ):c.3237C>T (p.His1079=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 589682	NM_015100.4(POGZ):c.3129A>G (p.Leu1043=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 207798	NM_015100.4(POGZ):c.3041del (p.Gln1014fs)	POGZ (Q1014fs +4 more)	Deletion (frameshift variant)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 713191	NM_015100.4(POGZ):c.3024A>G (p.Arg1008=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 224724	NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)	POGZ (R1001* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GPathogenic
Select item 521279	NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)	POGZ (R997* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 218149	NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)	POGZ (R979* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 588584	NM_015100.4(POGZ):c.2913G>A (p.Glu971=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 987897	NM_015100.4(POGZ):c.2849dup (p.Val951fs)	POGZ (V856fs +4 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 730852	NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu)	POGZ (P835L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 589186	NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)	POGZ (P930R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588150	NM_015100.4(POGZ):c.2669C>T (p.Ala890Val)	POGZ (A890V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 559853	NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)	POGZ (N829fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 588017	NM_015100.4(POGZ):c.2634C>G (p.Ser878=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 1098578	NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del)	POGZ	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 730661	NM_015100.4(POGZ):c.2559A>G (p.Ile853Met)	POGZ (I758M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 280908	NM_015100.4(POGZ):c.2520_2521del (p.His840fs)	POGZ (H745fs +4 more)	Microsatellite (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1246557	NM_015100.4(POGZ):c.2493C>G (p.Ala831=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 708512	NM_015100.4(POGZ):c.2451C>T (p.Cys817=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1182731	NM_015100.4(POGZ):c.2433-3T>C	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 280468	NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)	POGZ (R784* +4 more)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic
Select item 218146	NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs)	POGZ (S712fs +4 more)	Microsatellite (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GPathogenic
Select item 589214	NM_015100.4(POGZ):c.2310C>T (p.Tyr770=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 729040	NM_015100.4(POGZ):c.2235-10T>C	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257122	NM_015100.4(POGZ):c.2235-11T>C	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1342587	NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)	POGZ (V638I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 588475	NM_015100.4(POGZ):c.2157CTC[1] (p.Ser721del)	POGZ (S721del +4 more)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 987080	NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)	POGZ (R603* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GPathogenic
Select item 1784893	NM_015100.4(POGZ):c.2040G>A (p.Glu680=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1327429	NM_015100.4(POGZ):c.1927-17del	POGZ	Deletion (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GBenign
Select item 521685	NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)	POGZ (R617Q +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GUncertain significance
Select item 588119	NM_015100.4(POGZ):c.1788A>G (p.Gln596=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1239905	NM_015100.4(POGZ):c.1779+39C>T	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GBenign
Select item 930505	NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr)	POGZ (C500Y +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 589637	NM_015100.4(POGZ):c.1623T>C (p.Thr541=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 451792	NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter)	POGZ (Y536* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 589497	NM_015100.4(POGZ):c.1557C>T (p.Leu519=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 747975	NM_015100.4(POGZ):c.1548C>T (p.His516=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1265758	NM_015100.4(POGZ):c.1524-10T>G	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 620444	NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)	POGZ (R508* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GPathogenic
Select item 73166	NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)	POGZ (R381W +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GUncertain significance
Select item 589461	NM_015100.4(POGZ):c.1186-4A>G	POGZ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 373048	NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	POGZ (M332fs +4 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +5 more	GPathogenic
Select item 1270223	NM_015100.4(POGZ):c.1104C>T (p.Asp368=)	POGZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 717812	NM_015100.4(POGZ):c.1062T>A (p.Pro354=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 757726	NM_015100.4(POGZ):c.945T>C (p.Asn315=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GBenign
Select item 587889	NM_015100.4(POGZ):c.930A>G (p.Thr310=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign
Select item 588121	NM_015100.4(POGZ):c.860-5C>T	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign
Select item 588326	NM_015100.4(POGZ):c.753C>T (p.Ser251=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GBenign/Likely benign
Select item 588765	NM_015100.4(POGZ):c.747C>T (p.Thr249=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 620406	NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)	POGZ (R238* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 450471	NM_015100.4(POGZ):c.634G>A (p.Val212Met)	POGZ (V212M +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GUncertain significance
Select item 1246056	NM_015100.4(POGZ):c.568+34T>C	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GBenign
Select item 587971	NM_015100.4(POGZ):c.357A>G (p.Thr119=)	POGZ	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 588130	NM_015100.4(POGZ):c.222C>T (p.Ser74=)	POGZ	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 730526	NM_015100.4(POGZ):c.70G>A (p.Val24Ile)	POGZ (V24I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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Items: 71