POGZ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
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 1738912	NM_015100.4(POGZ):c.4230T>A (p.Ile1410=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 560551	NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr)	POGZ (A1403T +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 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 755121	NM_015100.4(POGZ):c.4197C>T (p.Gly1399=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 589030	NM_015100.4(POGZ):c.4154A>G (p.His1385Arg)	POGZ (H1385R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1738108	NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)	POGZ (I1284V +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 560552	NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)	POGZ (T1378P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 521502	NM_015100.4(POGZ):c.4103_4104inv (p.Thr1368Lys)	POGZ (T1306K +4 more)	Inversion (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737869	NM_015100.4(POGZ):c.4103C>A (p.Thr1368Asn)	POGZ (T1368N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1737763	NM_015100.4(POGZ):c.4092T>G (p.Ser1364=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 588658	NM_015100.4(POGZ):c.4088A>G (p.His1363Arg)	POGZ (H1363R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1176203	NM_015100.4(POGZ):c.4081G>A (p.Gly1361Arg)	POGZ (G1266R +4 more)	Single nucleotide variant (missense variant)	not provided	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 560553	NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln)	POGZ (E1348Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 1737107	NM_015100.4(POGZ):c.4020A>G (p.Thr1340=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1737066	NM_015100.4(POGZ):c.4017_4019del (p.Thr1340del)	POGZ (T1278del +5 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1058550	NM_015100.4(POGZ):c.4015C>T (p.Pro1339Ser)	POGZ (P1244S +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 1736802	NM_015100.4(POGZ):c.3996C>T (p.Pro1332=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 716186	NM_015100.4(POGZ):c.3979A>G (p.Ser1327Gly)	POGZ (S1232G +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1736645	NM_015100.4(POGZ):c.3975G>A (p.Val1325=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 2392315	NM_015100.4(POGZ):c.3931G>A (p.Val1311Ile)	POGZ (V1216I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 633538	NM_015100.4(POGZ):c.3914T>G (p.Leu1305Arg)	POGZ (L1305R +4 more)	Single nucleotide variant (missense variant)	not provided	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 589677	NM_015100.4(POGZ):c.3907G>T (p.Val1303Phe)	POGZ (V1303F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300603	NM_015100.4(POGZ):c.3898C>T (p.Leu1300=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1735850	NM_015100.4(POGZ):c.3887T>C (p.Val1296Ala)	POGZ (V1243A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2276381	NM_015100.4(POGZ):c.3863C>A (p.Ala1288Glu)	POGZ (A1235E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2276379	NM_015100.4(POGZ):c.3862G>T (p.Ala1288Ser)	POGZ (A1226S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 224725	NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter)	POGZ (Q1283* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
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 2504460	NM_015100.4(POGZ):c.3832_3834delinsCAT (p.Lys1278His)	POGZ (K1183H +5 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3338546	NM_015100.4(POGZ):c.3831T>G (p.His1277Gln)	POGZ (H1182Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879092	NM_015100.4(POGZ):c.3818del (p.Lys1273fs)	POGZ (K1178fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1735183	NM_015100.4(POGZ):c.3813T>C (p.Thr1271=)	POGZ	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 560555	NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg)	POGZ (K1269R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 870783	NM_015100.4(POGZ):c.3803T>A (p.Ile1268Asn)	POGZ (I1215N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560556	NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val)	POGZ (I1268V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 3381759	NM_015100.4(POGZ):c.3801C>A (p.Cys1267Ter)	POGZ (C1172* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 806210	NM_015100.4(POGZ):c.3796G>T (p.Val1266Leu)	POGZ (V1213L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 560557	NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys)	POGZ (S1258C +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 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 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 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 861008	NM_015100.4(POGZ):c.3679G>A (p.Val1227Met)	POGZ (V1165M +4 more)	Single nucleotide variant (missense variant)	not provided	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 729084	NM_015100.4(POGZ):c.3672C>T (p.Gly1224=)	POGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2320644	NM_015100.4(POGZ):c.3662G>A (p.Arg1221His)	POGZ (R1221H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 560558	NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg)	POGZ (Q1220R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 588670	NM_015100.4(POGZ):c.3646C>T (p.His1216Tyr)	POGZ (H1216Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 631528	NM_015100.4(POGZ):c.3638G>A (p.Trp1213Ter)	POGZ (W1151* +4 more)	Single nucleotide variant (nonsense)	Obesity	GLikely pathogenic
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 2257709	NM_015100.4(POGZ):c.3629C>T (p.Thr1210Ile)	POGZ (T1201I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 817105	NM_015100.4(POGZ):c.3621del (p.Trp1208fs)	POGZ (W1113fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 1733034	NM_015100.4(POGZ):c.3598A>G (p.Ser1200Gly)	POGZ (S1200G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 987243	NM_015100.4(POGZ):c.3597_3598del (p.Tyr1199_Ser1200delinsTer)	POGZ	Deletion (nonsense)	not provided	GPathogenic

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