C4225351[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 588658	NM_015100.4(POGZ):c.4088A>G (p.His1363Arg)	POGZ (H1363R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 2231801	NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)	POGZ (A658T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	GConflicting classifications of pathogenicity
Select item 521685	NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)	POGZ (R617Q +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more	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 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 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 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 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 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

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Items: 23