ClinVar for Gene (Select 23126) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236556	NM_015100.4(POGZ):c.1215_1216dup (p.Lys406fs)	POGZ (K311fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 3235216	NM_015100.4(POGZ):c.2002dup (p.Gln668fs)	POGZ (Q573fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 3234701	NM_015100.4(POGZ):c.366del (p.Gln123fs)	POGZ (Q123fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3234468	NM_015100.4(POGZ):c.846G>A (p.Thr282=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233489	NM_015100.4(POGZ):c.2062-19del	POGZ	Deletion (intron variant)	not specified	GLikely benign
Select item 3233282	NM_015100.4(POGZ):c.2162C>G (p.Ser721Ter)	POGZ (S626* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 3216287	NM_015100.4(POGZ):c.882T>C (p.Pro294=)	POGZ	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3216285	NM_015100.4(POGZ):c.504T>G (p.Asn168Lys)	POGZ (N115K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216283	NM_015100.4(POGZ):c.3596A>G (p.Tyr1199Cys)	POGZ (Y1190C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216281	NM_015100.4(POGZ):c.2963A>G (p.Asn988Ser)	POGZ (N995S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216280	NM_015100.4(POGZ):c.2474C>G (p.Ser825Cys)	POGZ (S772C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216279	NM_015100.4(POGZ):c.2020del (p.Arg674fs)	POGZ (R674fs +5 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3216278	NM_015100.4(POGZ):c.1533C>G (p.Asn511Lys)	POGZ (N416K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067129	NM_015100.4(POGZ):c.3727C>G (p.Leu1243Val)	POGZ (L1148V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 3064955	NM_015100.4(POGZ):c.2942_2945dup (p.Phe983fs)	POGZ (F888fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 3063716	NM_015100.4(POGZ):c.4148G>A (p.Ser1383Asn)	POGZ (S1288N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062289	NM_015100.4(POGZ):c.2771dup (p.Gln925fs)	POGZ (Q830fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 3057504	NM_015100.4(POGZ):c.3789A>G (p.Pro1263=)	POGZ	Single nucleotide variant (synonymous variant)	POGZ-related disorder	GLikely benign
Select item 3052751	NM_015100.4(POGZ):c.1927-8C>G	POGZ	Single nucleotide variant (intron variant)	POGZ-related disorder	GLikely benign
Select item 3042710	NM_015100.4(POGZ):c.2169C>T (p.Asp723=)	POGZ	Single nucleotide variant (synonymous variant)	POGZ-related disorder	GLikely benign
Select item 3039256	NM_015100.4(POGZ):c.2811C>T (p.Ala937=)	POGZ	Single nucleotide variant (synonymous variant)	POGZ-related disorder	GLikely benign
Select item 3030810	NM_015100.4(POGZ):c.2256A>G (p.Thr752=)	POGZ	Single nucleotide variant (synonymous variant)	POGZ-related disorder	GLikely benign
Select item 3026441	NM_015100.4(POGZ):c.-2+120C>G	POGZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025574	NM_015100.4(POGZ):c.2865T>G (p.Pro955=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024333	NM_015100.4(POGZ):c.1673dup (p.Thr559fs)	POGZ (T464fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 3024322	NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs)	POGZ (E1024fs +5 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 3024320	NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs)	POGZ (E26fs +1 more)	Indel (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 2862599	NM_015100.4(POGZ):c.497C>T (p.Ala166Val)	POGZ (A166V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2808922	NM_015100.4(POGZ):c.1526dup (p.Met510fs)	POGZ (M448fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2691011	NM_015100.4(POGZ):c.3476_3477insTAC (p.Val1159_Val1160insThr)	POGZ	Insertion (inframe_insertion)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2689804	NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)	POGZ (M1130I +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2681141	NM_015100.4(POGZ):c.600dup (p.Gly201fs)	POGZ (G106fs +3 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 2663516	NM_015100.4(POGZ):c.1874T>G (p.Leu625Arg)	POGZ (L530R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663432	NM_015100.4(POGZ):c.898A>G (p.Ser300Gly)	POGZ (S205G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663277	NM_015100.4(POGZ):c.213TAG[1] (p.Ser74del)	POGZ (S74del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2662085	NM_015100.4(POGZ):c.1495T>C (p.Cys499Arg)	POGZ (C404R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661928	NM_015100.4(POGZ):c.2246G>C (p.Gly749Ala)	POGZ (G654A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639179	NM_015100.4(POGZ):c.290A>G (p.Asn97Ser)	POGZ (N104S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639178	NM_015100.4(POGZ):c.456G>A (p.Thr152=)	POGZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639177	NM_015100.4(POGZ):c.1925_1926+4dup	POGZ	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2639176	NM_015100.4(POGZ):c.2626C>T (p.Pro876Ser)	POGZ (P781S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639175	NM_015100.4(POGZ):c.2670G>A (p.Ala890=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639174	NM_015100.4(POGZ):c.3598A>C (p.Ser1200Arg)	POGZ (S1105R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639173	NM_015100.4(POGZ):c.3970C>G (p.Leu1324Val)	POGZ (L1229V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637662	NM_015100.4(POGZ):c.39G>A (p.Glu13=)	POGZ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2635984	NM_015100.4(POGZ):c.2176C>G (p.Pro726Ala)	POGZ (P631A +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2634323	NM_015100.4(POGZ):c.3628A>G (p.Thr1210Ala)	POGZ (T1115A +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2633948	NM_015100.4(POGZ):c.1895A>T (p.Asn632Ile)	POGZ (N537I +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2633281	NM_015100.4(POGZ):c.373G>A (p.Val125Ile)	POGZ (V125I +2 more)	Single nucleotide variant (missense variant +1 more)	POGZ-related disorder	GUncertain significance
Select item 2633084	NM_015100.4(POGZ):c.1136G>T (p.Arg379Leu)	POGZ (R284L +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2632952	NM_015100.4(POGZ):c.1274C>T (p.Ser425Phe)	POGZ (S330F +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2631784	NM_015100.4(POGZ):c.1540A>G (p.Lys514Glu)	POGZ (K419E +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2631444	NM_015100.4(POGZ):c.2411C>T (p.Ala804Val)	POGZ (A709V +5 more)	Single nucleotide variant (missense variant)	POGZ-related disorder	GUncertain significance
Select item 2630687	NM_015100.4(POGZ):c.397C>G (p.Gln133Glu)	POGZ (Q133E +2 more)	Single nucleotide variant (missense variant +1 more)	POGZ-related disorder	GUncertain significance
Select item 2630351	NM_015100.4(POGZ):c.2035_2037del (p.Leu679del)	POGZ (L584del +5 more)	Deletion (inframe_deletion)	POGZ-related disorder	GUncertain significance
Select item 2630235	NM_015100.4(POGZ):c.3468G>A (p.Trp1156Ter)	POGZ (W1061* +5 more)	Single nucleotide variant (nonsense)	POGZ-related disorder	GLikely pathogenic
Select item 2627851	NM_015100.4(POGZ):c.1535A>G (p.His512Arg)	POGZ (H417R +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2626934	NM_015100.4(POGZ):c.2931G>A (p.Lys977=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2613457	NM_015100.4(POGZ):c.343_344dup (p.Gly116fs)	POGZ (G116fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2584948	NM_015100.4(POGZ):c.263C>G (p.Thr88Arg)	POGZ (T88R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2582456	NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)	POGZ (Y378H +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
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 2581047	NM_015100.4(POGZ):c.3351del (p.Leu1117fs)	POGZ (L1022fs +5 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2581038	NM_015100.4(POGZ):c.4219C>A (p.Leu1407Met)	POGZ (L1312M +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580211	NM_015100.4(POGZ):c.1078+2T>C	POGZ	Single nucleotide variant (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	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 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 2578432	NM_015100.4(POGZ):c.1725del (p.Leu576fs)	POGZ (L481fs +5 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 2578398	NM_015100.4(POGZ):c.1606dup (p.Tyr536fs)	POGZ (Y441fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 2578365	NM_015100.4(POGZ):c.2433-1G>C	POGZ	Single nucleotide variant (splice acceptor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2577812	NM_015100.4(POGZ):c.1658A>G (p.His553Arg)	POGZ (H458R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2577419	NM_015100.4(POGZ):c.2545+1G>T	POGZ	Single nucleotide variant (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 2575773	NM_015100.4(POGZ):c.2195C>G (p.Pro732Arg)	POGZ (P637R +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2575743	NM_015100.4(POGZ):c.1926+3A>C	POGZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2573575	NM_015100.4(POGZ):c.3895C>G (p.Gln1299Glu)	POGZ (Q1204E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572240	NM_015100.4(POGZ):c.1790A>G (p.Tyr597Cys)	POGZ (Y502C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570732	NM_015100.4(POGZ):c.3046dup (p.Glu1016fs)	POGZ (E1007fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2559935	NM_015100.4(POGZ):c.2504T>G (p.Val835Gly)	POGZ (V740G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554587	NM_015100.4(POGZ):c.2467G>C (p.Val823Leu)	POGZ (V814L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543117	NM_015100.4(POGZ):c.649A>G (p.Thr217Ala)	POGZ (T164A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535627	NM_015100.4(POGZ):c.223G>A (p.Gly75Arg)	POGZ (G75R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2526931	NM_015100.4(POGZ):c.3313A>G (p.Ile1105Val)	POGZ (I1043V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518835	NM_015100.4(POGZ):c.739C>G (p.Gln247Glu)	POGZ (Q152E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2504429	NM_015100.4(POGZ):c.319C>T (p.Leu107Phe)	POGZ (L107F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504310	NM_015100.4(POGZ):c.1496G>A (p.Cys499Tyr)	POGZ (C404Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2501438	NM_015100.4(POGZ):c.2314C>T (p.His772Tyr)	POGZ (H677Y +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 2500406	NM_015100.4(POGZ):c.1792C>T (p.Arg598Cys)	POGZ (R503C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499711	NM_015100.4(POGZ):c.1637A>C (p.Gln546Pro)	POGZ (Q451P +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 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 2495521	NM_015100.4(POGZ):c.649A>T (p.Thr217Ser)	POGZ (T224S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482882	NM_015100.4(POGZ):c.915G>C (p.Lys305Asn)	POGZ (K312N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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