ClinVar for MedGen (Select 897984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2444354	NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)	POGZ (S815* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2444259	NM_015100.4(POGZ):c.3046del (p.Glu1016fs)	POGZ (E1007fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2435141	NM_015100.4(POGZ):c.284-3T>C	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435140	NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)	POGZ (D425N +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435139	NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)	POGZ (R1004H +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435138	NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)	POGZ (P752Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435137	NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)	POGZ (V1208G +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435136	NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)	POGZ (R1030C +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435135	NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)	POGZ (E1253L +5 more)	Indel (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435134	NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)	POGZ (L1008F +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435133	NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)	POGZ (R655Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435132	NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)	POGZ (M1085I +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435131	NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)	POGZ (N361K +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435130	NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)	POGZ (I1241T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2435129	NM_015100.4(POGZ):c.358A>G (p.Met120Val)	POGZ (M120V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435128	NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)	POGZ (A56T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2431796	NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)	POGZ (Q1033* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2431489	NM_015100.4(POGZ):c.3403G>C (p.Glu1135Gln)	POGZ (E1040Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2412692	NM_015100.4(POGZ):c.2508del (p.Phe836fs)	POGZ (F783fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 2412691	NM_015100.4(POGZ):c.3837del (p.Lys1279fs)	POGZ (K1226fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 2304301	NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)	POGZ (E1392V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2231801	NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)	POGZ (A658T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1878658	NM_015100.4(POGZ):c.245C>G (p.Thr82Arg)	POGZ (T82R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1805078	NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg)	POGZ (P1155R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1804028	NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)	POGZ (L845fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1803698	NM_015100.4(POGZ):c.1679-1G>A	POGZ	Single nucleotide variant (splice acceptor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1803366	NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)	POGZ (E1294Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GUncertain significance
Select item 1784893	NM_015100.4(POGZ):c.2040G>A (p.Glu680=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GLikely benign
Select item 1710479	NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)	POGZ (K580* +4 more)	Duplication (nonsense +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1710349	NM_015100.4(POGZ):c.1053del (p.Ser352fs)	POGZ (S257fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1709658	NM_015100.4(POGZ):c.1064A>T (p.Glu355Val)	POGZ (E260V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1705564	NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)	POGZ	Deletion (frameshift variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1704372	NM_015100.4(POGZ):c.7del (p.Asp3fs)	POGZ (D3fs)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1685409	NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly)	POGZ (R762G +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1684515	NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs)	POGZ (L806fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1683673	NM_015100.4(POGZ):c.91G>A (p.Glu31Lys)	POGZ (E31K)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1683672	NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs)	POGZ (M1026fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1679787	NM_015100.4(POGZ):c.163A>G (p.Ile55Val)	POGZ (I55V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1679519	NM_015100.4(POGZ):c.2545+2del	POGZ	Deletion (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1676247	NM_015100.4(POGZ):c.118A>G (p.Thr40Ala)	POGZ (T40A)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1343243	NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)	POGZ (R284* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1343160	NM_015100.4(POGZ):c.460-2A>C	POGZ	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
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 1342491	NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg)	POGZ (Q1188R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1341776	NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys)	POGZ (E664K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1333981	NM_015100.4(POGZ):c.3107T>C (p.Leu1036Pro)	POGZ (L1027P +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1333980	NM_015100.4(POGZ):c.3100T>G (p.Trp1034Gly)	POGZ (W1025G +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1328521	NM_015100.4(POGZ):c.859+1G>A	POGZ	Single nucleotide variant (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1328433	NM_015100.4(POGZ):c.1A>G (p.Met1Val)	POGZ (M1V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1327429	NM_015100.4(POGZ):c.1927-17del	POGZ	Deletion (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GBenign
Select item 1324947	NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs)	POGZ (R682fs +4 more)	Insertion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1323483	NM_015100.4(POGZ):c.2570+1G>T	POGZ	Single nucleotide variant (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1301717	NM_015100.4(POGZ):c.-6A>G	POGZ	Single nucleotide variant (5 prime UTR variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GBenign
Select item 1301308	NM_015100.4(POGZ):c.3936del (p.Ile1312fs)	POGZ (I1217fs +4 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Gnot provided
Select item 1299665	NM_015100.4(POGZ):c.3351dup (p.Pro1118fs)	POGZ (P1023fs +4 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1278768	NM_015100.4(POGZ):c.*30A>G	POGZ	Single nucleotide variant (3 prime UTR variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GBenign
Select item 1270223	NM_015100.4(POGZ):c.1104C>T (p.Asp368=)	POGZ	Single nucleotide variant (synonymous variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +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 1257122	NM_015100.4(POGZ):c.2235-11T>C	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 +3 more	GBenign/Likely benign
Select item 1246056	NM_015100.4(POGZ):c.568+34T>C	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239905	NM_015100.4(POGZ):c.1779+39C>T	POGZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224304	NM_015100.4(POGZ):c.64del (p.Ser22fs)	POGZ (S22fs)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 1184815	NM_015100.4(POGZ):c.1679-3C>G	POGZ	Single nucleotide variant (intron variant)	not provided	GPathogenic
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 1172624	NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter)	POGZ (Q1032* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1172530	NM_015100.4(POGZ):c.2546-20T>A	POGZ	Single nucleotide variant (intron variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1164015	NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter)	POGZ (Q1005* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1098578	NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del)	POGZ	Deletion (inframe_deletion)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GUncertain significance
Select item 1046439	NM_015100.4(POGZ):c.1313C>A (p.Ser438Tyr)	POGZ (S429Y +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032658	NM_015100.4(POGZ):c.787C>G (p.Gln263Glu)	POGZ (Q210E +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1032657	NM_015100.4(POGZ):c.3425G>A (p.Arg1142Gln)	POGZ (R1047Q +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1032656	NM_015100.4(POGZ):c.2768dup (p.His923fs)	POGZ (H828fs +4 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 1030409	NM_015100.4(POGZ):c.83C>T (p.Ser28Phe)	POGZ (S28F)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1030408	NM_015100.4(POGZ):c.4008T>G (p.Ile1336Met)	POGZ (I1327M +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1030407	NM_015100.4(POGZ):c.3334A>G (p.Ile1112Val)	POGZ (I1017V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 1030406	NM_015100.4(POGZ):c.2375A>G (p.Asn792Ser)	POGZ (N697S +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
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 987080	NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)	POGZ (R603* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 983498	NM_015100.4(POGZ):c.692del (p.Ile231fs)	POGZ (I136fs +2 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 982601	NM_015100.4(POGZ):c.13G>A (p.Asp5Asn)	POGZ (D5N)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance

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