ClinVar for MedGen (Select 1784554) - ClinVar

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Items: 63

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277971.	NM_015021.3(ZNF292):c.2360G>A (p.Gly787Glu) GRCh37: Chr6:87965707 GRCh38: Chr6:87255989	ZNF292	G647E, G787E	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance	criteria provided, single submitter
Select item 26276762.	NM_015021.3(ZNF292):c.1414G>T (p.Glu472Ter) GRCh37: Chr6:87964761 GRCh38: Chr6:87255043	ZNF292	E332, E472	Intellectual developmental disorder, autosomal dominant 64	Pathogenic (Nov 6, 2023)	criteria provided, single submitter
Select item 25855343.	NM_015021.3(ZNF292):c.406G>A (p.Ala136Thr) GRCh37: Chr6:87928317 GRCh38: Chr6:87218599	ZNF292	A136T	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance	criteria provided, single submitter
Select item 25853754.	NM_015021.3(ZNF292):c.7219T>C (p.Tyr2407His) GRCh37: Chr6:87970566 GRCh38: Chr6:87260848	ZNF292	Y2267H, Y2407H	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance	criteria provided, single submitter
Select item 25825085.	NM_015021.3(ZNF292):c.4717A>C (p.Asn1573His) GRCh37: Chr6:87968064 GRCh38: Chr6:87258346	ZNF292	N1433H, N1573H	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 25810996.	NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs) GRCh37: Chr6:87965382-87965385 GRCh38: Chr6:87255664-87255667	ZNF292	E540fs, E680fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic	criteria provided, single submitter
Select item 25791397.	NM_015021.3(ZNF292):c.1021-3C>T GRCh37: Chr6:87964365 GRCh38: Chr6:87254647	ZNF292		Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jul 12, 2023)	criteria provided, single submitter
Select item 25765398.	NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln) GRCh37: Chr6:87865370 GRCh38: Chr6:87155652	LOC129996783, ZNF292	E21Q	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Aug 21, 2023)	criteria provided, single submitter
Select item 25730379.	NM_015021.3(ZNF292):c.2T>G (p.Met1Arg) GRCh37: Chr6:87865311 GRCh38: Chr6:87155593	LOC129996783, ZNF292	M1R	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Mar 14, 2023)	criteria provided, single submitter
Select item 257239310.	NM_015021.3(ZNF292):c.5367_5370del (p.Asn1790fs) GRCh37: Chr6:87968710-87968713 GRCh38: Chr6:87258992-87258995	ZNF292	N1650fs, N1790fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic	criteria provided, single submitter
Select item 249958211.	NM_015021.3(ZNF292):c.4973_4974del (p.Ile1658fs) GRCh37: Chr6:87968319-87968320 GRCh38: Chr6:87258601-87258602	ZNF292	I1518fs, I1658fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 249832312.	NM_015021.3(ZNF292):c.3830C>T (p.Ser1277Leu) GRCh37: Chr6:87967177 GRCh38: Chr6:87257459	ZNF292	S1137L, S1277L	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Apr 14, 2023)	criteria provided, single submitter
Select item 249832113.	NM_015021.3(ZNF292):c.4457G>A (p.Gly1486Asp) GRCh37: Chr6:87967804 GRCh38: Chr6:87258086	ZNF292	G1346D, G1486D	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Mar 15, 2023)	criteria provided, single submitter
Select item 244335614.	NM_015021.3(ZNF292):c.7614del (p.Asn2538fs) GRCh37: Chr6:87970961 GRCh38: Chr6:87261243	ZNF292	N2398fs, N2538fs	Intellectual developmental disorder, autosomal dominant 64	Likely benign (Jan 27, 2020)	criteria provided, single submitter
Select item 244335515.	NM_015021.3(ZNF292):c.7460del (p.Leu2487fs) GRCh37: Chr6:87970806 GRCh38: Chr6:87261088	ZNF292	L2347fs, L2487fs	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Mar 23, 2020)	criteria provided, single submitter
Select item 244335416.	NM_015021.3(ZNF292):c.323+1G>A GRCh37: Chr6:87925776 GRCh38: Chr6:87216058	ZNF292		Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 244335317.	NM_015021.3(ZNF292):c.4933C>T (p.Gln1645Ter) GRCh37: Chr6:87968280 GRCh38: Chr6:87258562	ZNF292	Q1505, Q1645	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Dec 10, 2019)	criteria provided, single submitter
Select item 244235318.	NM_015021.3(ZNF292):c.2404C>T (p.Gln802Ter) GRCh37: Chr6:87965751 GRCh38: Chr6:87256033	ZNF292	Q662, Q802	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Nov 20, 2019)	criteria provided, single submitter
Select item 243868019.	NM_015021.3(ZNF292):c.505A>C (p.Ile169Leu) GRCh37: Chr6:87928416 GRCh38: Chr6:87218698	ZNF292	I169L, I29L	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 243867920.	NM_015021.3(ZNF292):c.7900A>G (p.Thr2634Ala) GRCh37: Chr6:87971247 GRCh38: Chr6:87261529	ZNF292	T2494A, T2634A	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 243867821.	NM_015021.3(ZNF292):c.5492C>T (p.Ser1831Leu) GRCh37: Chr6:87968839 GRCh38: Chr6:87259121	ZNF292	S1691L, S1831L	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 243867722.	NM_015021.3(ZNF292):c.3736C>G (p.Leu1246Val) GRCh37: Chr6:87967083 GRCh38: Chr6:87257365	ZNF292	L1106V, L1246V	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 243867623.	NM_015021.3(ZNF292):c.6905T>C (p.Met2302Thr) GRCh37: Chr6:87970252 GRCh38: Chr6:87260534	ZNF292	M2162T, M2302T	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 243867524.	NM_015021.3(ZNF292):c.5149G>A (p.Ala1717Thr) GRCh37: Chr6:87968496 GRCh38: Chr6:87258778	ZNF292	A1577T, A1717T	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 243867425.	NM_015021.3(ZNF292):c.3761A>G (p.Asn1254Ser) GRCh37: Chr6:87967108 GRCh38: Chr6:87257390	ZNF292	N1114S, N1254S	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 243867326.	NM_015021.3(ZNF292):c.3903T>G (p.Ile1301Met) GRCh37: Chr6:87967250 GRCh38: Chr6:87257532	ZNF292	I1161M, I1301M	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 243867227.	NM_015021.3(ZNF292):c.5218_5220delinsGTG (p.Ile1740Val) GRCh37: Chr6:87968565-87968567 GRCh38: Chr6:87258847-87258849	ZNF292	I1600V, I1740V	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Jun 21, 2021)	criteria provided, single submitter
Select item 243184528.	NM_015021.3(ZNF292):c.3790C>T (p.Pro1264Ser) GRCh37: Chr6:87967137 GRCh38: Chr6:87257419	ZNF292	P1124S, P1264S	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 243143929.	NM_015021.3(ZNF292):c.5650C>T (p.Gln1884Ter) GRCh37: Chr6:87968997 GRCh38: Chr6:87259279	ZNF292	Q1744, Q1884	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 242994230.	NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs) GRCh37: Chr6:87969836-87969837 GRCh38: Chr6:87260118-87260119	ZNF292	E2024fs, E2164fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 238645831.	NM_015021.3(ZNF292):c.4471A>G (p.Lys1491Glu) GRCh37: Chr6:87967818 GRCh38: Chr6:87258100	ZNF292	K1491E, K1351E	Intellectual developmental disorder, autosomal dominant 64, Inborn genetic diseases	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 224752132.	NM_015021.3(ZNF292):c.7065G>T (p.Lys2355Asn) GRCh37: Chr6:87970412 GRCh38: Chr6:87260694	ZNF292	K2215N, K2355N	Inborn genetic diseases, Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187854433.	NM_015021.3(ZNF292):c.5591A>G (p.Asn1864Ser) GRCh37: Chr6:87968938 GRCh38: Chr6:87259220	ZNF292	N1724S, N1864S	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance	criteria provided, single submitter
Select item 180565634.	NM_015021.3(ZNF292):c.2312G>A (p.Arg771Gln) GRCh37: Chr6:87965659 GRCh38: Chr6:87255941	ZNF292	R631Q, R771Q	Intellectual developmental disorder, autosomal dominant 64	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 180559135.	NM_015021.3(ZNF292):c.1262A>G (p.Asn421Ser) GRCh37: Chr6:87964609 GRCh38: Chr6:87254891	ZNF292	N281S, N421S	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180535036.	NM_015021.3(ZNF292):c.4450C>T (p.Gln1484Ter) GRCh37: Chr6:87967797 GRCh38: Chr6:87258079	ZNF292	Q1344, Q1484	Intellectual developmental disorder, autosomal dominant 64	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180534937.	NM_015021.3(ZNF292):c.3064G>C (p.Glu1022Gln) GRCh37: Chr6:87966411 GRCh38: Chr6:87256693	ZNF292	E1022Q, E882Q	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180524438.	NM_015021.3(ZNF292):c.1618T>C (p.Tyr540His) GRCh37: Chr6:87964965 GRCh38: Chr6:87255247	ZNF292	Y400H, Y540H	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180521639.	NM_015021.3(ZNF292):c.5584C>A (p.Leu1862Met) GRCh37: Chr6:87968931 GRCh38: Chr6:87259213	ZNF292	L1722M, L1862M	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180333340.	NM_015021.3(ZNF292):c.3432_3436del (p.Asn1144fs) GRCh37: Chr6:87966777-87966781 GRCh38: Chr6:87257059-87257063	ZNF292	N1004fs, N1144fs	Intellectual developmental disorder, autosomal dominant 64, not provided	Pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180254041.	NM_015021.3(ZNF292):c.4189C>T (p.Arg1397Ter) GRCh37: Chr6:87967536 GRCh38: Chr6:87257818	ZNF292	R1257, R1397	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 170933242.	NM_015021.3(ZNF292):c.4451A>C (p.Gln1484Pro) GRCh37: Chr6:87967798 GRCh38: Chr6:87258080	ZNF292	Q1344P, Q1484P	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 170823343.	NM_015021.3(ZNF292):c.6145del (p.Ser2049fs) GRCh37: Chr6:87969484 GRCh38: Chr6:87259766	ZNF292	S1909fs, S2049fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 169895444.	NM_015021.3(ZNF292):c.6266_6269del (p.Lys2089fs) GRCh37: Chr6:87969612-87969615 GRCh38: Chr6:87259894-87259897	ZNF292	K1949fs, K2089fs	Intellectual developmental disorder, autosomal dominant 64	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169155045.	NM_015021.3(ZNF292):c.1423G>C (p.Asp475His) GRCh37: Chr6:87964770 GRCh38: Chr6:87255052	ZNF292	D335H, D475H	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 168366946.	NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs) GRCh37: Chr6:87969344-87969354 GRCh38: Chr6:87259626-87259636	ZNF292	S1860fs, S2000fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 168366847.	NM_015021.3(ZNF292):c.1273C>T (p.Pro425Ser) GRCh37: Chr6:87964620 GRCh38: Chr6:87254902	ZNF292	P285S, P425S	Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 134233948.	NM_015021.3(ZNF292):c.1190A>G (p.Glu397Gly) GRCh37: Chr6:87964537 GRCh38: Chr6:87254819	ZNF292	E257G, E397G	Inborn genetic diseases, Intellectual developmental disorder, autosomal dominant 64	Uncertain significance (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133438549.	NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter) GRCh37: Chr6:87953321 GRCh38: Chr6:87243603	ZNF292	Y150, Y290	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 133330250.	NM_015021.3(ZNF292):c.5906_5909del (p.Gln1969fs) GRCh37: Chr6:87969253-87969256 GRCh38: Chr6:87259535-87259538	ZNF292	Q1829fs, Q1969fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133134451.	NM_015021.3(ZNF292):c.4862del (p.Asn1621fs) GRCh37: Chr6:87968207 GRCh38: Chr6:87258489	ZNF292	N1481fs, N1621fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic	no assertion criteria provided
Select item 132024652.	NM_015021.3(ZNF292):c.3862dup (p.Ser1288fs) GRCh37: Chr6:87967203-87967204 GRCh38: Chr6:87257485-87257486	ZNF292	S1148fs, S1288fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 132014153.	NM_015021.3(ZNF292):c.6015dup (p.Lys2006fs) GRCh37: Chr6:87969361-87969362 GRCh38: Chr6:87259643-87259644	ZNF292	K1866fs, K2006fs	Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 117264454.	NM_015021.3(ZNF292):c.3319C>T (p.Arg1107Ter) GRCh37: Chr6:87966666 GRCh38: Chr6:87256948	ZNF292	R1107, R967	Motor delay, Intellectual developmental disorder, autosomal dominant 64	Likely pathogenic (Jan 27, 2020)	criteria provided, single submitter
Select item 98219855.	NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs) GRCh37: Chr6:87969620-87969621 GRCh38: Chr6:87259902-87259903	ZNF292	R1954fs, R2094fs	Intellectual developmental disorder, autosomal dominant 64	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98216456.	NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) GRCh37: Chr6:87967763-87967764 GRCh38: Chr6:87258045-87258046	ZNF292	S1333fs, S1473fs	Intellectual developmental disorder, autosomal dominant 64, Neurodevelopmental disorder	Pathogenic/Likely pathogenic (Feb 19, 2021)	no assertion criteria provided
Select item 98216257.	NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) GRCh37: Chr6:87967071 GRCh38: Chr6:87257353	ZNF292	Q1102fs, Q1242fs	Inborn genetic diseases	Pathogenic (Jun 19, 2020)	criteria provided, single submitter
Select item 98215858.	NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) GRCh37: Chr6:87965835-87965836 GRCh38: Chr6:87256117-87256118	ZNF292	S692fs, S832fs	Intellectual developmental disorder, autosomal dominant 64, Neurodevelopmental disorder	Pathogenic/Likely pathogenic (Feb 19, 2021)	no assertion criteria provided
Select item 98215559.	NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) GRCh37: Chr6:87964707 GRCh38: Chr6:87254989	ZNF292	R314, R454	Intellectual developmental disorder, autosomal dominant 64	Pathogenic (Mar 19, 2021)	criteria provided, single submitter
Select item 98139260.	NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) GRCh37: Chr6:87969506-87969507 GRCh38: Chr6:87259788-87259789	ZNF292	E1914fs, E2054fs	Intellectual developmental disorder, autosomal dominant 64, not provided, Intellectual disability, Neurodevelopmental disorder, Inborn genetic diseases	Pathogenic/Likely pathogenic (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98138661.	NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) GRCh37: Chr6:87925717 GRCh38: Chr6:87215999	ZNF292	R89*	Intellectual disability, Intellectual developmental disorder, autosomal dominant 64	Pathogenic/Likely pathogenic (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78609362.	NM_015021.3(ZNF292):c.1227G>A (p.Leu409=) GRCh37: Chr6:87964574 GRCh38: Chr6:87254856	ZNF292		Intellectual developmental disorder, autosomal dominant 64, not provided	Benign/Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43110663.	NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) GRCh37: Chr6:87966410-87966413 GRCh38: Chr6:87256692-87256695	ZNF292	E882fs, E1022fs	Intellectual disability, Intellectual developmental disorder, autosomal dominant 64	Pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 63