"GeneDx"[submitter] AND "POGZ"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144803	GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3	POGZ, PSMB4 +1 more	Copy number gain	See cases	GBenign
Select item 152674	GRCh38/hg38 1q21.3(chr1:151404320-151427484)x3	POGZ	Copy number gain	See cases	GLikely benign
Select item 1196316	NM_015100.4(POGZ):c.*269del	POGZ	Deletion (3 prime UTR variant)	not provided	GLikely benign
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 2444578	NM_015100.4(POGZ):c.4183G>A (p.Glu1395Lys)	POGZ (E1300K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3342790	NM_015100.4(POGZ):c.4141C>T (p.Pro1381Ser)	POGZ (P1286S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499258	NM_015100.4(POGZ):c.4121C>G (p.Ser1374Cys)	POGZ (S1279C +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1314413	NM_015100.4(POGZ):c.4108C>T (p.Arg1370Ter)	POGZ (R1275* +4 more)	Single nucleotide variant (nonsense)	not provided	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 1306520	NM_015100.4(POGZ):c.4102A>T (p.Thr1368Ser)	POGZ (T1273S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1216194	NM_015100.4(POGZ):c.3997G>A (p.Asp1333Asn)	POGZ (D1238N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300603	NM_015100.4(POGZ):c.3898C>T (p.Leu1300=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 560554	NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro)	POGZ (S1294P +4 more)	Single nucleotide variant (missense variant)	not provided	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 1302319	NM_015100.4(POGZ):c.3853C>T (p.Arg1285Trp)	POGZ (R1190W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504460	NM_015100.4(POGZ):c.3832_3834delinsCAT (p.Lys1278His)	POGZ (K1183H +5 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3252307	NM_015100.4(POGZ):c.3743C>G (p.Thr1248Ser)	POGZ (T1153S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430338	NM_015100.4(POGZ):c.3733G>T (p.Ala1245Ser)	POGZ (A1150S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368146	NM_015100.4(POGZ):c.3709G>A (p.Glu1237Lys)	POGZ (E1142K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340756	NM_015100.4(POGZ):c.3701_3704del (p.His1234fs)	POGZ (H1139fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2579416	NM_015100.4(POGZ):c.3695G>A (p.Arg1232His)	POGZ (R1137H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702686	NM_015100.4(POGZ):c.3694C>T (p.Arg1232Cys)	POGZ (R1137C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371934	NM_015100.4(POGZ):c.3692A>G (p.His1231Arg)	POGZ (H1136R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371219	NM_015100.4(POGZ):c.3689G>A (p.Cys1230Tyr)	POGZ (C1135Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800485	NM_015100.4(POGZ):c.3671G>A (p.Gly1224Asp)	POGZ (G1129D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442673	NM_015100.4(POGZ):c.3662_3663delinsTT (p.Arg1221Leu)	POGZ (R1126L +5 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2579946	NM_015100.4(POGZ):c.3644A>G (p.Lys1215Arg)	POGZ (K1120R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723839	NM_015100.4(POGZ):c.3635T>G (p.Val1212Gly)	POGZ (V1117G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817105	NM_015100.4(POGZ):c.3621del (p.Trp1208fs)	POGZ (W1113fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1801147	NM_015100.4(POGZ):c.3604G>C (p.Asp1202His)	POGZ (D1107H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502003	NM_015100.4(POGZ):c.3460G>A (p.Glu1154Lys)	POGZ (E1059K +5 more)	Single nucleotide variant (missense variant)	not provided	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 1197377	NM_015100.4(POGZ):c.3401C>G (p.Thr1134Arg)	POGZ (T1039R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 545951	NM_015100.4(POGZ):c.3350del (p.Leu1117fs)	POGZ (L1022fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1300676	NM_015100.4(POGZ):c.3329G>A (p.Arg1110Gln)	POGZ (R1015Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 817848	NM_015100.4(POGZ):c.3321del (p.Phe1107fs)	POGZ (F1012fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 817667	NM_015100.4(POGZ):c.3309_3310del (p.Phe1104fs)	POGZ (F1051fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 2581810	NM_015100.4(POGZ):c.3196A>T (p.Lys1066Ter)	POGZ (K1004* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3365272	NM_015100.4(POGZ):c.3163A>G (p.Thr1055Ala)	POGZ (T1002A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1691144	NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys)	POGZ (E1031K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 1201507	NM_015100.4(POGZ):c.3034G>A (p.Ala1012Thr)	POGZ (A1003T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 426598	NM_015100.4(POGZ):c.3022C>T (p.Arg1008Ter)	POGZ (R1008* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2577804	NM_015100.4(POGZ):c.3008T>C (p.Ile1003Thr)	POGZ (I1003T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2430493	NM_015100.4(POGZ):c.2944C>T (p.Leu982=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1313065	NM_015100.4(POGZ):c.2936G>A (p.Arg979Gln)	POGZ (R884Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 419828	NM_015100.4(POGZ):c.2924_2925del (p.Val975fs)	POGZ (V880fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 620278	NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter)	POGZ (Q972* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3375546	NM_015100.4(POGZ):c.2889_2913del (p.Gly965fs)	POGZ (G870fs +5 more)	Deletion (frameshift variant)	not provided	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 1329731	NM_015100.4(POGZ):c.2872G>A (p.Ala958Thr)	POGZ (A863T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220054	NM_015100.4(POGZ):c.2814A>G (p.Glu938=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1310364	NM_015100.4(POGZ):c.2806G>C (p.Gly936Arg)	POGZ (G841R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 817836	NM_015100.4(POGZ):c.2781dup (p.Ala928fs)	POGZ (A875fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2498065	NM_015100.4(POGZ):c.2776G>T (p.Ala926Ser)	POGZ (A831S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676937	NM_015100.4(POGZ):c.2772G>A (p.Pro924=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218147	NM_015100.4(POGZ):c.2763dup (p.Thr922fs)	POGZ (T860fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 207797	NM_015100.4(POGZ):c.2750dup (p.Pro918fs)	POGZ (P918fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1193553	NM_015100.4(POGZ):c.2726C>T (p.Pro909Leu)	POGZ (P814L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252461	NM_015100.4(POGZ):c.2683G>T (p.Ala895Ser)	POGZ (A800S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376029	NM_015100.4(POGZ):c.2681C>T (p.Pro894Leu)	POGZ (P799L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500578	NM_015100.4(POGZ):c.2674G>A (p.Ala892Thr)	POGZ (A797T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442509	NM_015100.4(POGZ):c.2672G>A (p.Gly891Glu)	POGZ (G796E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 817793	NM_015100.4(POGZ):c.2655del (p.Thr886fs)	POGZ (T824fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 207796	NM_015100.4(POGZ):c.2641del (p.Thr881fs)	POGZ (T819fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1700311	NM_015100.4(POGZ):c.2635_2638del (p.Phe879fs)	POGZ (F784fs +4 more)	Microsatellite (frameshift variant)	not provided	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 2503197	NM_015100.4(POGZ):c.2627C>T (p.Pro876Leu)	POGZ (P781L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419656	NM_015100.4(POGZ):c.2616del (p.Asn872fs)	POGZ (N777fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 224723	NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)	POGZ (R864* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1207693	NM_015100.4(POGZ):c.2570+3A>C	POGZ	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 489073	NM_015100.4(POGZ):c.2567C>G (p.Ser856Ter)	POGZ (S856* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 523834	NM_015100.4(POGZ):c.2556G>A (p.Trp852Ter)	POGZ (W852* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1202168	NM_015100.4(POGZ):c.2546-114G>T	POGZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252302	NM_015100.4(POGZ):c.2545+137C>T	POGZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335842	NM_015100.4(POGZ):c.2541A>G (p.Pro847=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 207801	NM_015100.4(POGZ):c.2514dup (p.Ser839fs)	POGZ (S839fs +4 more)	Duplication (frameshift variant)	not provided	GLikely 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 2554587	NM_015100.4(POGZ):c.2467G>C (p.Val823Leu)	POGZ (V814L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707753	NM_015100.4(POGZ):c.2459G>C (p.Cys820Ser)	POGZ (C725S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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