ClinVar for MedGen (Select 897984) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802111.	NM_015100.4(POGZ):c.1078+2T>C GRCh37: Chr1:151400297 GRCh38: Chr1:151427821	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (May 22, 2023)	criteria provided, single submitter
Select item 25784322.	NM_015100.4(POGZ):c.1725del (p.Leu576fs) GRCh37: Chr1:151384826 GRCh38: Chr1:151412350	POGZ	L481fs, L514fs, L523fs, L567fs, L576fs, L583fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Apr 21, 2023)	criteria provided, single submitter
Select item 25783983.	NM_015100.4(POGZ):c.1606dup (p.Tyr536fs) GRCh37: Chr1:151395944-151395945 GRCh38: Chr1:151423468-151423469	POGZ	Y441fs, Y474fs, Y483fs, Y527fs, Y536fs, Y543fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic	no assertion criteria provided
Select item 25783654.	NM_015100.4(POGZ):c.2433-1G>C GRCh37: Chr1:151379500 GRCh38: Chr1:151407024	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Sep 7, 2023)	criteria provided, single submitter
Select item 25774195.	NM_015100.4(POGZ):c.2545+1G>T GRCh37: Chr1:151379386 GRCh38: Chr1:151406910	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Sep 13, 2021)	no assertion criteria provided
Select item 24443546.	NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter) GRCh37: Chr1:151378782 GRCh38: Chr1:151406306	POGZ	S815, S848, S857, S901, S910, S917	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442597.	NM_015100.4(POGZ):c.3046del (p.Glu1016fs) GRCh37: Chr1:151378465 GRCh38: Chr1:151405989	POGZ	E1007fs, E1016fs, E921fs, E954fs, E963fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24351418.	NM_015100.4(POGZ):c.284-3T>C GRCh37: Chr1:151403320 GRCh38: Chr1:151430844	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 24351409.	NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn) GRCh37: Chr1:151395993 GRCh38: Chr1:151423517	POGZ	D425N, D458N, D467N, D511N, D520N, D527N	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 8, 2021)	criteria provided, single submitter
Select item 243513910.	NM_015100.4(POGZ):c.3011G>A (p.Arg1004His) GRCh37: Chr1:151378500 GRCh38: Chr1:151406024	POGZ	R1004H, R1011H, R909H, R942H, R951H, R995H	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 21, 2021)	criteria provided, single submitter
Select item 243513811.	NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln) GRCh37: Chr1:151379392 GRCh38: Chr1:151406916	POGZ	P752Q, P785Q, P794Q, P838Q, P847Q, P854Q	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jun 14, 2019)	criteria provided, single submitter
Select item 243513712.	NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly) GRCh37: Chr1:151377603 GRCh38: Chr1:151405127	POGZ	V1208G, V1241G, V1250G, V1294G, V1303G, V1310G	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 243513613.	NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys) GRCh37: Chr1:151378396 GRCh38: Chr1:151405920	POGZ	R1030C, R1039C, R1046C, R944C, R977C, R986C	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jul 18, 2019)	criteria provided, single submitter
Select item 243513514.	NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu) GRCh37: Chr1:151377468-151377469 GRCh38: Chr1:151404992-151404993	POGZ	E1253L, E1286L, E1295L, E1339L, E1348L, E1355L	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 17, 2019)	criteria provided, single submitter
Select item 243513415.	NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe) GRCh37: Chr1:151378204 GRCh38: Chr1:151405728	POGZ	L1008F, L1041F, L1050F, L1094F, L1103F, L1110F	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (May 23, 2019)	criteria provided, single submitter
Select item 243513316.	NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln) GRCh37: Chr1:151380702 GRCh38: Chr1:151408226	POGZ	R655Q, R688Q, R697Q, R741Q, R750Q, R757Q	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 243513217.	NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile) GRCh37: Chr1:151377971 GRCh38: Chr1:151405495	POGZ	M1085I, M1118I, M1127I, M1171I, M1180I, M1187I	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jun 7, 2021)	criteria provided, single submitter
Select item 243513118.	NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys) GRCh37: Chr1:151396580 GRCh38: Chr1:151424104	POGZ	N361K, N394K, N403K, N447K, N456K, N463K	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Dec 10, 2020)	criteria provided, single submitter
Select item 243513019.	NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr) GRCh37: Chr1:151377504 GRCh38: Chr1:151405028	POGZ	I1241T, I1274T, I1283T, I1327T, I1336T, I1343T	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Nov 24, 2020)	criteria provided, single submitter
Select item 243512920.	NM_015100.4(POGZ):c.358A>G (p.Met120Val) GRCh37: Chr1:151403243 GRCh38: Chr1:151430767	POGZ	M120V, M127V, M67V	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jun 23, 2020)	criteria provided, single submitter
Select item 243512821.	NM_015100.4(POGZ):c.166G>A (p.Ala56Thr) GRCh37: Chr1:151413521 GRCh38: Chr1:151441045	POGZ	A56T, A63T	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Dec 20, 2019)	criteria provided, single submitter
Select item 243179622.	NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter) GRCh37: Chr1:151378387 GRCh38: Chr1:151405911	POGZ	Q1033, Q1042, Q1049, Q947, Q980, Q989	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Nov 18, 2022)	criteria provided, single submitter
Select item 243148923.	NM_015100.4(POGZ):c.3403G>C (p.Glu1135Gln) GRCh37: Chr1:151378108 GRCh38: Chr1:151405632	POGZ	E1040Q, E1073Q, E1082Q, E1126Q, E1135Q, E1142Q	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 241269224.	NM_015100.4(POGZ):c.2508del (p.Phe836fs) GRCh37: Chr1:151379424 GRCh38: Chr1:151406948	POGZ	F783fs, F836fs, F741fs, F774fs, F827fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 241269125.	NM_015100.4(POGZ):c.3837del (p.Lys1279fs) GRCh37: Chr1:151377674 GRCh38: Chr1:151405198	POGZ	K1226fs, K1184fs, K1217fs, K1279fs, K1270fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 230430126.	NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val) GRCh37: Chr1:151377309 GRCh38: Chr1:151404833	POGZ	E1392V, E1401V, E1408V, E1306V, E1339V, E1348V	Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 223180127.	NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr) GRCh37: Chr1:151380988 GRCh38: Chr1:151408512	POGZ	A658T, A702T, A718T, A711T, A616T, A649T	Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Conflicting interpretations of pathogenicity (Jul 19, 2021)	criteria provided, conflicting interpretations
Select item 187865828.	NM_015100.4(POGZ):c.245C>G (p.Thr82Arg) GRCh37: Chr1:151413442 GRCh38: Chr1:151440966	POGZ	T82R, T89R	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance	criteria provided, single submitter
Select item 180507829.	NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg) GRCh37: Chr1:151377762 GRCh38: Chr1:151405286	POGZ	P1155R, P1188R, P1197R, P1241R, P1250R, P1257R	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180402830.	NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs) GRCh37: Chr1:151378685-151378692 GRCh38: Chr1:151406209-151406216	POGZ	L845fs, L878fs, L887fs, L931fs, L940fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Aug 28, 2020)	criteria provided, single submitter
Select item 180369831.	NM_015100.4(POGZ):c.1679-1G>A GRCh37: Chr1:151384873 GRCh38: Chr1:151412397	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 178489332.	NM_015100.4(POGZ):c.2040G>A (p.Glu680=) GRCh37: Chr1:151381191 GRCh38: Chr1:151408715	POGZ		Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely benign (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 171047933.	NM_015100.4(POGZ):c.2022dup (p.Lys675Ter) GRCh37: Chr1:151381208-151381209 GRCh38: Chr1:151408732-151408733	POGZ	K580, K613, K622, K666, K675*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 171034934.	NM_015100.4(POGZ):c.1053del (p.Ser352fs) GRCh37: Chr1:151400324 GRCh38: Chr1:151427848	POGZ	S257fs, S290fs, S299fs, S343fs, S352fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 170965835.	NM_015100.4(POGZ):c.1064A>T (p.Glu355Val) GRCh37: Chr1:151400313 GRCh38: Chr1:151427837	POGZ	E260V, E293V, E302V, E346V, E355V, E362V	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 170556436.	NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer) GRCh37: Chr1:151378802 GRCh38: Chr1:151406326	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170437237.	NM_015100.4(POGZ):c.7del (p.Asp3fs) GRCh37: Chr1:151414674 GRCh38: Chr1:151442198	POGZ	D3fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 168540938.	NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) GRCh37: Chr1:151379084 GRCh38: Chr1:151406608	POGZ	R762G, R795G, R804G, R848G, R857G	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168451539.	NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) GRCh37: Chr1:151378801-151378811 GRCh38: Chr1:151406325-151406335	POGZ	L806fs, L839fs, L848fs, L892fs, L901fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 168367340.	NM_015100.4(POGZ):c.91G>A (p.Glu31Lys) GRCh37: Chr1:151414590 GRCh38: Chr1:151442114	POGZ	E31K	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 168367241.	NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) GRCh37: Chr1:151378149-151378150 GRCh38: Chr1:151405673-151405674	POGZ	M1026fs, M1059fs, M1068fs, M1112fs, M1121fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 167978742.	NM_015100.4(POGZ):c.163A>G (p.Ile55Val) GRCh37: Chr1:151413524 GRCh38: Chr1:151441048	POGZ	I55V	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Apr 16, 2021)	criteria provided, single submitter
Select item 167951943.	NM_015100.4(POGZ):c.2545+2del GRCh37: Chr1:151379385 GRCh38: Chr1:151406909	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 167624744.	NM_015100.4(POGZ):c.118A>G (p.Thr40Ala) GRCh37: Chr1:151414563 GRCh38: Chr1:151442087	POGZ	T40A	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 134324345.	NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) GRCh37: Chr1:151397481 GRCh38: Chr1:151425005	POGZ	R284, R317, R326, R370, R379*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Sep 14, 2021)	criteria provided, single submitter
Select item 134316046.	NM_015100.4(POGZ):c.460-2A>C GRCh37: Chr1:151402189 GRCh38: Chr1:151429713	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Jan 26, 2021)	criteria provided, single submitter
Select item 134258747.	NM_015100.4(POGZ):c.2197G>A (p.Val733Ile) GRCh37: Chr1:151380922 GRCh38: Chr1:151408446	POGZ	V638I, V671I, V680I, V724I, V733I	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134249148.	NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg) GRCh37: Chr1:151377663 GRCh38: Chr1:151405187	POGZ	Q1188R, Q1221R, Q1230R, Q1274R, Q1283R	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 134177649.	NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys) GRCh37: Chr1:151380676 GRCh38: Chr1:151408200	POGZ	E664K, E697K, E706K, E750K, E759K	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jan 17, 2023)	criteria provided, conflicting interpretations
Select item 133398150.	NM_015100.4(POGZ):c.3107T>C (p.Leu1036Pro) GRCh37: Chr1:151378404 GRCh38: Chr1:151405928	POGZ	L1027P, L1036P, L941P, L974P, L983P	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Aug 31, 2020)	criteria provided, single submitter
Select item 133398051.	NM_015100.4(POGZ):c.3100T>G (p.Trp1034Gly) GRCh37: Chr1:151378411 GRCh38: Chr1:151405935	POGZ	W1025G, W1034G, W939G, W972G, W981G	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 27, 2021)	criteria provided, single submitter
Select item 132852152.	NM_015100.4(POGZ):c.859+1G>A GRCh37: Chr1:151400598 GRCh38: Chr1:151428122	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (May 18, 2021)	criteria provided, single submitter
Select item 132843353.	NM_015100.4(POGZ):c.1A>G (p.Met1Val) GRCh37: Chr1:151414680 GRCh38: Chr1:151442204	POGZ	M1V	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic	no assertion criteria provided
Select item 132742954.	NM_015100.4(POGZ):c.1927-17del GRCh37: Chr1:151381321 GRCh38: Chr1:151408845	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 132494755.	NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) GRCh37: Chr1:151380626-151380627 GRCh38: Chr1:151408150-151408151	POGZ	R682fs, R715fs, R724fs, R768fs, R777fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Oct 15, 2021)	criteria provided, single submitter
Select item 132348356.	NM_015100.4(POGZ):c.2570+1G>T GRCh37: Chr1:151379082 GRCh38: Chr1:151406606	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Feb 10, 2020)	criteria provided, single submitter
Select item 130171757.	NM_015100.4(POGZ):c.-6A>G GRCh37: Chr1:151431632 GRCh38: Chr1:151459156	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Benign (Jan 6, 2020)	criteria provided, single submitter
Select item 130130858.	NM_015100.4(POGZ):c.3936del (p.Ile1312fs) GRCh37: Chr1:151377575 GRCh38: Chr1:151405099	POGZ	I1217fs, I1250fs, I1259fs, I1303fs, I1312fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	not provided	no assertion provided
Select item 129966559.	NM_015100.4(POGZ):c.3351dup (p.Pro1118fs) GRCh37: Chr1:151378159-151378160 GRCh38: Chr1:151405683-151405684	POGZ	P1023fs, P1056fs, P1065fs, P1109fs, P1118fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Oct 5, 2021)	no assertion criteria provided
Select item 127876860.	NM_015100.4(POGZ):c.*30A>G GRCh37: Chr1:151377248 GRCh38: Chr1:151404772	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, not provided	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126575861.	NM_015100.4(POGZ):c.1524-10T>G GRCh37: Chr1:151396037 GRCh38: Chr1:151423561	POGZ		not provided, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125712262.	NM_015100.4(POGZ):c.2235-11T>C GRCh37: Chr1:151380727 GRCh38: Chr1:151408251	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, not provided	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124605663.	NM_015100.4(POGZ):c.568+34T>C GRCh37: Chr1:151402045 GRCh38: Chr1:151429569	POGZ		not provided, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123990564.	NM_015100.4(POGZ):c.1779+39C>T GRCh37: Chr1:151384733 GRCh38: Chr1:151412257	POGZ		not provided, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122430465.	NM_015100.4(POGZ):c.64del (p.Ser22fs) GRCh37: Chr1:151414617 GRCh38: Chr1:151442141	POGZ	S22fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Sep 3, 2021)	criteria provided, single submitter
Select item 118481566.	NM_015100.4(POGZ):c.1679-3C>G GRCh37: Chr1:151384875 GRCh38: Chr1:151412399	POGZ		not provided	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 117262467.	NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter) GRCh37: Chr1:151378390 GRCh38: Chr1:151405914	POGZ	Q1032, Q1041, Q946, Q979, Q988*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic	criteria provided, single submitter
Select item 117253068.	NM_015100.4(POGZ):c.2546-20T>A GRCh37: Chr1:151379127 GRCh38: Chr1:151406651	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 29, 2021)	criteria provided, single submitter
Select item 116401569.	NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) GRCh37: Chr1:151378471 GRCh38: Chr1:151405995	POGZ	Q1005, Q1014, Q919, Q952, Q961*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (May 13, 2021)	no assertion criteria provided
Select item 109857870.	NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del) GRCh37: Chr1:151378912-151378935 GRCh38: Chr1:151406436-151406459	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104643971.	NM_015100.4(POGZ):c.1313C>A (p.Ser438Tyr) GRCh37: Chr1:151396635 GRCh38: Chr1:151424159	POGZ	S429Y, S438Y, S376Y, S385Y, S343Y	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 2, 2021)	criteria provided, conflicting interpretations
Select item 103265872.	NM_015100.4(POGZ):c.787C>G (p.Gln263Glu) GRCh37: Chr1:151400671 GRCh38: Chr1:151428195	POGZ	Q210E, Q168E, Q263E	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (May 24, 2018)	criteria provided, single submitter
Select item 103265773.	NM_015100.4(POGZ):c.3425G>A (p.Arg1142Gln) GRCh37: Chr1:151378086 GRCh38: Chr1:151405610	POGZ	R1047Q, R1080Q, R1089Q, R1142Q, R1133Q	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Aug 9, 2018)	criteria provided, single submitter
Select item 103265674.	NM_015100.4(POGZ):c.2768dup (p.His923fs) GRCh37: Chr1:151378742-151378743 GRCh38: Chr1:151406266-151406267	POGZ	H828fs, H861fs, H870fs, H914fs, H923fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 103040975.	NM_015100.4(POGZ):c.83C>T (p.Ser28Phe) GRCh37: Chr1:151414598 GRCh38: Chr1:151442122	POGZ	S28F	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Feb 5, 2020)	criteria provided, single submitter
Select item 103040876.	NM_015100.4(POGZ):c.4008T>G (p.Ile1336Met) GRCh37: Chr1:151377503 GRCh38: Chr1:151405027	POGZ	I1327M, I1241M, I1274M, I1283M, I1336M	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 26, 2019)	criteria provided, single submitter
Select item 103040777.	NM_015100.4(POGZ):c.3334A>G (p.Ile1112Val) GRCh37: Chr1:151378177 GRCh38: Chr1:151405701	POGZ	I1017V, I1112V, I1050V, I1059V, I1103V	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jul 15, 2019)	criteria provided, single submitter
Select item 103040678.	NM_015100.4(POGZ):c.2375A>G (p.Asn792Ser) GRCh37: Chr1:151380576 GRCh38: Chr1:151408100	POGZ	N697S, N730S, N739S, N783S, N792S	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 20, 2020)	criteria provided, single submitter
Select item 98789779.	NM_015100.4(POGZ):c.2849dup (p.Val951fs) GRCh37: Chr1:151378661-151378662 GRCh38: Chr1:151406185-151406186	POGZ	V856fs, V889fs, V898fs, V942fs, V951fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Nov 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 98349880.	NM_015100.4(POGZ):c.692del (p.Ile231fs) GRCh37: Chr1:151400766 GRCh38: Chr1:151428290	POGZ	I136fs, I178fs, I231fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Aug 6, 2020)	criteria provided, single submitter
Select item 98260181.	NM_015100.4(POGZ):c.13G>A (p.Asp5Asn) GRCh37: Chr1:151414668 GRCh38: Chr1:151442192	POGZ	D5N	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97644382.	NM_015100.4(POGZ):c.3360dup (p.Met1121fs) GRCh37: Chr1:151378150-151378151 GRCh38: Chr1:151405674-151405675	POGZ	M1026fs, M1059fs, M1068fs, M1112fs, M1121fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Mar 28, 2019)	no assertion criteria provided
Select item 97595283.	NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) GRCh37: Chr1:151378331-151378332 GRCh38: Chr1:151405855-151405856	POGZ	S1007fs, S1051fs, S1060fs, S965fs, S998fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jul 5, 2017)	criteria provided, single submitter
Select item 97562184.	NM_015100.4(POGZ):c.2433-2A>T GRCh37: Chr1:151379501 GRCh38: Chr1:151407025	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Jan 1, 2019)	no assertion criteria provided
Select item 97270685.	NM_015100.4(POGZ):c.62del (p.Ile21fs) GRCh37: Chr1:151414619 GRCh38: Chr1:151442143	POGZ	I21fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jun 15, 2020)	criteria provided, single submitter
Select item 93050586.	NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr) GRCh37: Chr1:151384866 GRCh38: Chr1:151412390	POGZ	C500Y, C509Y, C562Y, C467Y, C553Y	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Mar 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93024487.	NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr) GRCh37: Chr1:151396696 GRCh38: Chr1:151424220	POGZ	P356T, P409T, P418T, P323T, P365T	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Nov 21, 2018)	criteria provided, single submitter
Select item 81686988.	NM_000168.6(GLI3):c.4019C>A (p.Pro1340His) GRCh37: Chr7:42004652 GRCh38: Chr7:41965054	GLI3	P1340H	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter
Select item 81686889.	NM_001374353.1(GLI2):c.3387G>A (p.Trp1129Ter) GRCh37: Chr2:121746928 GRCh38: Chr2:120989352	GLI2	W1146, W1129, W1004*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Apr 19, 2018)	criteria provided, single submitter
Select item 80154690.	NM_015100.4(POGZ):c.125-1G>T GRCh37: Chr1:151413563 GRCh38: Chr1:151441087	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80154591.	NM_015100.4(POGZ):c.460-1G>A GRCh37: Chr1:151402188 GRCh38: Chr1:151429712	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80154492.	NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) GRCh37: Chr1:151378087 GRCh38: Chr1:151405611	POGZ	R1047, R1080, R1142, R1089, R1133*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic/Likely pathogenic (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80077493.	NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys) GRCh37: Chr1:151380929-151380931 GRCh38: Chr1:151408453-151408455	POGZ	Y668K, Y721K, Y677K, Y730K, Y635K	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance (Jan 29, 2019)	no assertion criteria provided
Select item 75199594.	NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) GRCh37: Chr1:151378232 GRCh38: Chr1:151405756	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, not provided	Benign/Likely benign (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66655395.	NM_015100.4(POGZ):c.1524-3C>G GRCh37: Chr1:151396030 GRCh38: Chr1:151423554	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Oct 23, 2018)	criteria provided, single submitter
Select item 66630596.	NM_015100.4(POGZ):c.2836del (p.Asp946fs) GRCh37: Chr1:151378675 GRCh38: Chr1:151406199	POGZ	D946fs, D884fs, D851fs, D893fs, D937fs	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 66630297.	NM_015100.4(POGZ):c.2545+1del GRCh37: Chr1:151379386 GRCh38: Chr1:151406910	POGZ		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 62048198.	NM_015100.4(POGZ):c.916C>T (p.Arg306Ter) GRCh37: Chr1:151400461 GRCh38: Chr1:151427985	POGZ	R306, R253, R297, R244, R211*	not provided	Likely pathogenic (Dec 4, 2018)	criteria provided, single submitter
Select item 62044499.	NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) GRCh37: Chr1:151396426 GRCh38: Chr1:151423950	POGZ	R508, R455, R446, R413, R499*	not provided, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 620052100.	NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter) GRCh37: Chr1:151378705 GRCh38: Chr1:151406229	POGZ	G936, G883, G841, G874, G927*	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic (Jul 5, 2018)	criteria provided, single submitter

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