"GeneDx"[submitter] AND "EZH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 259400	NM_004456.5(EZH2):c.*21del	EZH2	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 2663660	NM_004456.5(EZH2):c.2233G>T (p.Glu745Ter)	EZH2 (E689* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 384018	NM_004456.5(EZH2):c.2232C>T (p.Ile744=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome +1 more	GLikely benign
Select item 416830	NM_004456.5(EZH2):c.2226C>T (p.Val742=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 421581	NM_004456.5(EZH2):c.2221T>C (p.Tyr741His)	EZH2 (Y741H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1307224	NM_004456.5(EZH2):c.2212G>A (p.Ala738Thr)	EZH2 (A682T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488858	NM_004456.5(EZH2):c.2203C>T (p.Gln735Ter)	EZH2 (Q735* +4 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 377836	NM_004456.5(EZH2):c.2196-20T>C	EZH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 680130	NM_004456.5(EZH2):c.2196-61_2196-57dup	EZH2	Duplication (intron variant)	not provided	GBenign
Select item 1295920	NM_004456.5(EZH2):c.2196-110_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1293395	NM_004456.5(EZH2):c.2196-111_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1268894	NM_004456.5(EZH2):c.2196-115_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1260658	NM_004456.5(EZH2):c.2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 670397	NM_004456.5(EZH2):c.2196-130T>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193823	NM_004456.5(EZH2):c.2196-188C>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677792	NM_004456.5(EZH2):c.2196-244A>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277500	NM_004456.5(EZH2):c.2195+178T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210962	NM_004456.5(EZH2):c.2195+152T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200680	NM_004456.5(EZH2):c.2195+110G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680128	NM_004456.5(EZH2):c.2195+99T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431817	NM_004456.5(EZH2):c.2191T>C (p.Tyr731His)	EZH2 (Y731H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 210967	NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	EZH2 (D686* +4 more)	Duplication (nonsense)	Weaver syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1310707	NM_004456.5(EZH2):c.2118G>A (p.Met706Ile)	EZH2 (M650I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268221	NM_004456.5(EZH2):c.2111-46C>T	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670473	NM_004456.5(EZH2):c.2110+39A>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137273	NM_004456.5(EZH2):c.2110+6T>G	EZH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1451532	NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu)	EZH2 (S651L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome +1 more	GPathogenic/Likely pathogenic
Select item 451840	NM_004456.5(EZH2):c.2069G>A (p.Arg690His)	EZH2 (R690H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 158582	NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)	EZH2 (R684C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2428997	NM_004456.5(EZH2):c.2039T>C (p.Val680Ala)	EZH2 (V624A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226678	NM_004456.5(EZH2):c.2030-273del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1193858	NM_004456.5(EZH2):c.2029+127G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197098	NM_004456.5(EZH2):c.2029+104A>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391163	NM_004456.5(EZH2):c.2029+17G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +1 more	GLikely benign
Select item 158581	NM_004456.5(EZH2):c.2028T>C (p.Asn676=)	EZH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 265527	NM_004456.5(EZH2):c.2007C>G (p.Ser669Arg)	EZH2 (S669R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1312139	NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn)	EZH2 (S613N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3373649	NM_004456.5(EZH2):c.1985T>C (p.Val662Ala)	EZH2 (V606A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698380	NM_004456.5(EZH2):c.1983A>G (p.Lys661=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome +1 more	GBenign/Likely benign
Select item 673587	NM_004456.5(EZH2):c.1948-29dup	EZH2	Duplication (intron variant)	not provided	GBenign
Select item 680126	NM_004456.5(EZH2):c.1947+236T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158578	NM_004456.5(EZH2):c.1852-6C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +2 more	GBenign/Likely benign
Select item 359278	NM_004456.5(EZH2):c.1852-9A>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +2 more	GBenign/Likely benign
Select item 670472	NM_004456.5(EZH2):c.1852-21T>C	EZH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1326381	NM_004456.5(EZH2):c.1851+48G>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3363390	NM_004456.5(EZH2):c.1843T>C (p.Ser615Pro)	EZH2 (S559P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502056	NM_004456.5(EZH2):c.1835A>G (p.Gln612Arg)	EZH2 (Q556R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372431	NM_004456.5(EZH2):c.1801A>G (p.Ser601Gly)	EZH2 (S545G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308899	NM_004456.5(EZH2):c.1744G>A (p.Val582Ile)	EZH2 (V526I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158577	NM_004456.5(EZH2):c.1731G>A (p.Pro577=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 432410	NM_004456.5(EZH2):c.1730C>T (p.Pro577Leu)	EZH2 (P577L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1803384	NM_004456.5(EZH2):c.1725G>T (p.Gln575His)	EZH2 (Q519H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723496	NM_004456.5(EZH2):c.1682G>A (p.Arg561His)	EZH2 (R505H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499748	NM_004456.5(EZH2):c.1675C>A (p.Gln559Lys)	EZH2 (Q503K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342064	NM_004456.5(EZH2):c.1673-39A>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190006	NM_004456.5(EZH2):c.1673-279G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302303	NM_004456.5(EZH2):c.1672+4_1672+7del	EZH2	Deletion (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2095057	NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)	EZH2 (Y525C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1806629	NM_004456.5(EZH2):c.1549G>A (p.Gly517Ser)	EZH2 (G473S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390231	NM_004456.5(EZH2):c.1547-10C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +1 more	GBenign/Likely benign
Select item 2444758	NM_004456.5(EZH2):c.1547-11T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2446275	NM_004456.5(EZH2):c.1528_1531del (p.Lys510fs)	EZH2 (K466fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 384742	NM_004456.5(EZH2):c.1506-19T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +1 more	GBenign/Likely benign
Select item 1183211	NM_004456.5(EZH2):c.1506-239T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193901	NM_004456.5(EZH2):c.1506-304C>T	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673572	NM_004456.5(EZH2):c.1505+269G>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297316	NM_004456.5(EZH2):c.1505+20C>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome +1 more	GBenign
Select item 514512	NM_004456.5(EZH2):c.1505+12A>G	EZH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2741170	NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)	EZH2 (P472A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391625	NM_004456.5(EZH2):c.1410+19A>G	EZH2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1169228	NM_004456.5(EZH2):c.1392G>A (p.Gly464=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 431864	NM_004456.5(EZH2):c.1363A>G (p.Asn455Asp)	EZH2 (N455D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800585	NM_004456.5(EZH2):c.1288G>C (p.Glu430Gln)	EZH2 (E386Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514941	NM_004456.5(EZH2):c.1245A>C (p.Ala415=)	EZH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 680127	NM_004456.5(EZH2):c.1241-135C>T	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677791	NM_004456.5(EZH2):c.1240+170G>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135537	NM_004456.5(EZH2):c.1240+48G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675884	NM_004456.5(EZH2):c.1240+35T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135538	NM_004456.5(EZH2):c.1240+9C>A	EZH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 576972	NM_004456.5(EZH2):c.1198_1200del (p.Lys400del)	EZH2 (K400del +3 more)	Deletion (inframe_deletion)	Weaver syndrome +1 more	GUncertain significance
Select item 2574210	NM_004456.5(EZH2):c.1182_1184del (p.Gly395del)	EZH2 (G351del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2500539	NM_004456.5(EZH2):c.1176_1177del (p.Glu392fs)	EZH2 (E348fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1708597	NM_004456.5(EZH2):c.1136A>G (p.Glu379Gly)	EZH2 (E335G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424019	NM_004456.5(EZH2):c.1119del (p.Thr374fs)	EZH2 (T360fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1094312	NM_004456.5(EZH2):c.1110C>T (p.Pro370=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1307405	NM_004456.5(EZH2):c.1084C>T (p.Arg362Trp)	EZH2 (R318W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506779	NM_004456.5(EZH2):c.1070G>A (p.Gly357Asp)	EZH2 (G313D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369189	NM_004456.5(EZH2):c.1063C>A (p.Pro355Thr)	EZH2 (P311T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158576	NM_004456.5(EZH2):c.1017T>C (p.Phe339=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome +2 more	GBenign
Select item 1196367	NM_004456.5(EZH2):c.1000-78T>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3375532	NM_004456.5(EZH2):c.932A>C (p.Tyr311Ser)	EZH2 (Y267S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699752	NM_004456.5(EZH2):c.920C>T (p.Thr307Ile)	EZH2 (T263I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712167	NM_004456.5(EZH2):c.914A>C (p.His305Pro)	EZH2 (H261P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206871	NM_004456.5(EZH2):c.908-99G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220013	NM_004456.5(EZH2):c.907+245del	EZH2	Deletion (intron variant)	not provided	GLikely benign

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