Related gene-specific medical variations for Gene (Select 23126) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2430101	NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)	POGZ (Y378C +5 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429427	NM_015100.4(POGZ):c.256_257del (p.Leu86fs)	POGZ (L86fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 1275776	NM_015100.4(POGZ):c.72del (p.Ile25fs)	POGZ (I25fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987243	NM_015100.4(POGZ):c.3597_3598del (p.Tyr1199_Ser1200delinsTer)	POGZ	Deletion (nonsense)	not provided	GPathogenic
Select item 987221	NM_015100.4(POGZ):c.632_633del (p.Pro211fs)	POGZ (P116fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986973	NM_015100.4(POGZ):c.1048_1051del (p.Arg350fs)	POGZ (R255fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 975621	NM_015100.4(POGZ):c.2433-2A>T	POGZ	Single nucleotide variant (splice acceptor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 930244	NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr)	POGZ (P356T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 806211	NM_015100.4(POGZ):c.1941T>G (p.Tyr647Ter)	POGZ (Y552* +4 more)	Single nucleotide variant (nonsense)	not provided	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 560594	NM_015100.4(POGZ):c.211G>A (p.Val71Ile)	POGZ (V71I)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560593	NM_015100.4(POGZ):c.272C>A (p.Ala91Asp)	POGZ (A91D)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560592	NM_015100.4(POGZ):c.303G>T (p.Gln101His)	POGZ (Q101H +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560591	NM_015100.4(POGZ):c.319C>G (p.Leu107Val)	POGZ (L107V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560590	NM_015100.4(POGZ):c.499A>G (p.Met167Val)	POGZ (M167V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560589	NM_015100.4(POGZ):c.625A>T (p.Met209Leu)	POGZ (M209L +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560588	NM_015100.4(POGZ):c.749A>G (p.Lys250Arg)	POGZ (K250R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560586	NM_015100.4(POGZ):c.794C>G (p.Thr265Ser)	POGZ (T265S +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560585	NM_015100.4(POGZ):c.830A>G (p.Gln277Arg)	POGZ (Q277R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560584	NM_015100.4(POGZ):c.860C>T (p.Ala287Val)	POGZ (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560583	NM_015100.4(POGZ):c.902T>C (p.Phe301Ser)	POGZ (F301S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560582	NM_015100.4(POGZ):c.942C>G (p.Ser314Arg)	POGZ (S314R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560581	NM_015100.4(POGZ):c.970C>G (p.Leu324Val)	POGZ (L324V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560579	NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala)	POGZ (P440A +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560577	NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)	POGZ (R476Q +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GUncertain significance
Select item 560576	NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly)	POGZ (A482G +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560575	NM_015100.4(POGZ):c.1549G>A (p.Val517Ile)	POGZ (V517I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560574	NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser)	POGZ (Y647S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560573	NM_015100.4(POGZ):c.1948A>C (p.Asn650His)	POGZ (N650H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560572	NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu)	POGZ (K660E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560571	NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn)	POGZ (S799N +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560570	NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp)	POGZ (R848W +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560569	NM_015100.4(POGZ):c.2557A>G (p.Ile853Val)	POGZ (I853V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560568	NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln)	POGZ (R864Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560567	NM_015100.4(POGZ):c.2608G>A (p.Val870Met)	POGZ (V870M +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560566	NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile)	POGZ (T902I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560565	NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu)	POGZ (P931L +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560564	NM_015100.4(POGZ):c.3116G>A (p.Arg1039His)	POGZ (R1039H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560563	NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu)	POGZ (Q1115E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560561	NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val)	POGZ (L1130V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560560	NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser)	POGZ (P1187S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 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 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 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 560554	NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro)	POGZ (S1294P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 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 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 446070	NM_015100.4(POGZ):c.1895A>G (p.Asn632Ser)	POGZ (N632S +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 236329	Single allele	POGZ	Duplication	Autism spectrum disorder	GUncertain significance
Select item 152674	GRCh38/hg38 1q21.3(chr1:151404320-151427484)x3	POGZ	Copy number gain	See cases	GLikely benign

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Items: 77