ClinVar for MedGen (Select 355304) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 205

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792611.	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1 GRCh38: Chr13:98343655-110990677	ABHD13, ANKRD10, ARGLU1, ARGLU1-DT, BIVM, BIVM-ERCC5, CARS2, CCDC168, CLYBL, CLYBL-AS1, CLYBL-AS2, CLYBL-AS3, COL4A1, COL4A2, COL4A2-AS1, COL4A2-AS2, DAOA, DAOA-AS1, DOCK9, DOCK9-AS1, DOCK9-DT, EFNB2, ERCC5, FARP1, FGF14, FGF14-AS1, FGF14-AS2, FGF14-IT1, FKSG29, GGACT, GPR18, GPR183, ING1, IRS2, ITGBL1, LIG4, LINC00343, LINC00370, LINC00396, LINC00399, LINC00411, LINC00431, LINC00443, LINC00449, LINC00460, LINC00554, LINC00567, LINC00676, LINC01039, LINC01232, LINC01309, LINC03032, LINC03061, LINC03082, LOC105370349, LOC105370362, LOC107992391, LOC110008580, LOC110120930, LOC110121473, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC116268457, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838582, LOC121838583, LOC124909516, LOC124909517, LOC124909518, LOC124909519, LOC124946325, LOC124946326, LOC124946327, LOC124946328, LOC124946329, LOC124946330, LOC124946331, LOC124946333, LOC124946334, LOC124946336, LOC124946337, LOC124946338, LOC124946339, LOC124946340, LOC126088081, LOC126861819, LOC126861820, LOC126861821, LOC126861822, LOC126861823, LOC126861824, LOC126861825, LOC126861826, LOC126861827, LOC126861828, LOC126861829, LOC126861830, LOC126861831, LOC126861832, LOC126861833, LOC126861834, LOC126861835, LOC126861836, LOC126861837, LOC126861838, LOC126861839, LOC126861840, LOC126861841, LOC126861842, LOC126861843, LOC126861844, LOC126861845, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, METTL21C, MIR1267, MIR2681, MIR4306, MIR4705, MIR623, MIR8073, MYO16, MYO16-AS1, MYO16-AS2, NALCN, NALCN-AS1, NALF1, NALF1-IT1, NAXD, NAXD-AS1, PCCA, PCCA-AS1, PCCA-DT, POGLUT2, PRECSIT, RAB20, SLC10A2, SLC15A1, SNORD31B, STK24, STK24-AS1, TEX30, TM9SF2, TMTC4, TNFSF13B, TPP2, UBAC2, UBAC2-AS1, ZIC2, ZIC5		Holoprosencephaly 5	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25011902.	NM_007129.5(ZIC2):c.1004del (p.Cys335fs) GRCh37: Chr13:100635322 GRCh38: Chr13:99983068	ZIC2	C335fs	Holoprosencephaly 5	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 24386533.	NM_007129.5(ZIC2):c.143G>C (p.Gly48Ala) GRCh37: Chr13:100634461 GRCh38: Chr13:99982207	ZIC2	G48A	Holoprosencephaly 5	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 24386524.	NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro) GRCh37: Chr13:100635115 GRCh38: Chr13:99982861	ZIC2	L266P	Holoprosencephaly 5	Uncertain significance (Feb 11, 2019)	criteria provided, single submitter
Select item 24256885.	NC_000013.10:g.(?_99336978)_(102379160_?)del GRCh37: Chr13:99336978-102379160	CLYBL, DOCK9, FGF14, GGACT, GPR18, GPR183, ITGBL1, NALCN, PCCA, SLC15A1, TM9SF2, TMTC4, UBAC2, ZIC2, ZIC5		Holoprosencephaly 5	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 24228066.	NC_000013.10:g.(?_100038233)_(103718599_?)dup GRCh37: Chr13:100038233-103718599	BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5		Holoprosencephaly 5, not provided, Propionic acidemia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 24210027.	NM_007129.5(ZIC2):c.1239+11G>C GRCh37: Chr13:100637374 GRCh38: Chr13:99985120	ZIC2		Holoprosencephaly 5	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 22025688.	NM_007129.5(ZIC2):c.507C>T (p.His169=) GRCh37: Chr13:100634825 GRCh38: Chr13:99982571	ZIC2		Holoprosencephaly 5	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 22007949.	NM_007129.5(ZIC2):c.1012C>T (p.Pro338Ser) GRCh37: Chr13:100635330 GRCh38: Chr13:99983076	ZIC2	P338S	Holoprosencephaly 5	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 220013910.	NM_007129.5(ZIC2):c.1538G>A (p.Gly513Asp) GRCh37: Chr13:100637875 GRCh38: Chr13:99985621	ZIC2	G513D	Holoprosencephaly 5	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219672511.	NM_007129.5(ZIC2):c.195C>T (p.Gly65=) GRCh37: Chr13:100634513 GRCh38: Chr13:99982259	ZIC2		Holoprosencephaly 5	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 219477512.	NM_007129.5(ZIC2):c.1104G>A (p.Glu368=) GRCh37: Chr13:100637228 GRCh38: Chr13:99984974	ZIC2		Holoprosencephaly 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219379113.	NM_007129.5(ZIC2):c.57C>T (p.Arg19=) GRCh37: Chr13:100634375 GRCh38: Chr13:99982121	ZIC2		Holoprosencephaly 5	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 219357314.	NM_007129.5(ZIC2):c.300C>T (p.Pro100=) GRCh37: Chr13:100634618 GRCh38: Chr13:99982364	ZIC2		Holoprosencephaly 5	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219067715.	NM_007129.5(ZIC2):c.1536G>A (p.Gly512=) GRCh37: Chr13:100637873 GRCh38: Chr13:99985619	ZIC2		Holoprosencephaly 5	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 218610216.	NM_007129.5(ZIC2):c.692ACC[7] (p.His238_His239del) GRCh37: Chr13:100635008-100635013 GRCh38: Chr13:99982754-99982759	ZIC2		Holoprosencephaly 5	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 218462317.	NM_007129.5(ZIC2):c.1368GGC[4] (p.Ala470_Val471insAla) GRCh37: Chr13:100637702-100637703 GRCh38: Chr13:99985448-99985449	ZIC2, LOC110008580		Holoprosencephaly 5	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 217668118.	NM_007129.5(ZIC2):c.463G>A (p.Gly155Ser) GRCh37: Chr13:100634781 GRCh38: Chr13:99982527	ZIC2	G155S	Holoprosencephaly 5	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 217150919.	NM_007129.5(ZIC2):c.543C>G (p.Leu181=) GRCh37: Chr13:100634861 GRCh38: Chr13:99982607	ZIC2		Holoprosencephaly 5	Likely benign (Nov 29, 2019)	criteria provided, single submitter
Select item 216954220.	NM_007129.5(ZIC2):c.1406_1411del (p.Ala469_Ala470del) GRCh37: Chr13:100637739-100637744 GRCh38: Chr13:99985485-99985490	LOC110008580, ZIC2		Holoprosencephaly 5	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216098521.	NM_007129.5(ZIC2):c.231C>G (p.Phe77Leu) GRCh37: Chr13:100634549 GRCh38: Chr13:99982295	ZIC2	F77L	Holoprosencephaly 5	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215281622.	NM_007129.5(ZIC2):c.1525A>G (p.Ser509Gly) GRCh37: Chr13:100637862 GRCh38: Chr13:99985608	ZIC2	S509G	Holoprosencephaly 5	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 214864623.	NM_007129.5(ZIC2):c.210C>G (p.Ser70=) GRCh37: Chr13:100634528 GRCh38: Chr13:99982274	ZIC2		Holoprosencephaly 5	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 214698924.	NM_007129.5(ZIC2):c.771C>T (p.Ile257=) GRCh37: Chr13:100635089 GRCh38: Chr13:99982835	ZIC2		Holoprosencephaly 5	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214330125.	NM_007129.5(ZIC2):c.1406_1411dup (p.Ala470_Val471insAlaAla) GRCh37: Chr13:100637738-100637739 GRCh38: Chr13:99985484-99985485	ZIC2, LOC110008580		Holoprosencephaly 5	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 214271726.	NM_007129.5(ZIC2):c.1474G>T (p.Gly492Cys) GRCh37: Chr13:100637811 GRCh38: Chr13:99985557	ZIC2	G492C	Holoprosencephaly 5	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 214256927.	NM_007129.5(ZIC2):c.1558C>G (p.His520Asp) GRCh37: Chr13:100637895 GRCh38: Chr13:99985641	ZIC2	H520D	Holoprosencephaly 5	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214003528.	NM_007129.5(ZIC2):c.1282G>T (p.Ala428Ser) GRCh37: Chr13:100637619 GRCh38: Chr13:99985365	ZIC2	A428S	Holoprosencephaly 5	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211788229.	NM_007129.5(ZIC2):c.1075+15G>A GRCh37: Chr13:100635408 GRCh38: Chr13:99983154	ZIC2		Holoprosencephaly 5	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211411930.	NM_007129.5(ZIC2):c.1535G>C (p.Gly512Ala) GRCh37: Chr13:100637872 GRCh38: Chr13:99985618	ZIC2	G512A	Holoprosencephaly 5	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 210316631.	NM_007129.5(ZIC2):c.1377A>T (p.Ala459=) GRCh37: Chr13:100637714 GRCh38: Chr13:99985460	LOC110008580, ZIC2		Holoprosencephaly 5	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 209286632.	NM_007129.5(ZIC2):c.1572C>A (p.Ser524=) GRCh37: Chr13:100637909 GRCh38: Chr13:99985655	ZIC2		Holoprosencephaly 5	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 208984733.	NM_007129.5(ZIC2):c.1074A>G (p.Thr358=) GRCh37: Chr13:100635392 GRCh38: Chr13:99983138	ZIC2		Holoprosencephaly 5	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 208788234.	NM_007129.5(ZIC2):c.1383G>C (p.Ala461=) GRCh37: Chr13:100637720 GRCh38: Chr13:99985466	LOC110008580, ZIC2		Holoprosencephaly 5	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208537635.	NM_007129.5(ZIC2):c.1442G>T (p.Gly481Val) GRCh37: Chr13:100637779 GRCh38: Chr13:99985525	ZIC2	G481V	Holoprosencephaly 5	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 208421736.	NM_007129.5(ZIC2):c.1490G>A (p.Gly497Glu) GRCh37: Chr13:100637827 GRCh38: Chr13:99985573	ZIC2	G497E	Holoprosencephaly 5	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 208408537.	NM_007129.5(ZIC2):c.27C>T (p.Phe9=) GRCh37: Chr13:100634345 GRCh38: Chr13:99982091	ZIC2		Holoprosencephaly 5	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 208158738.	NM_007129.5(ZIC2):c.762G>A (p.Gln254=) GRCh37: Chr13:100635080 GRCh38: Chr13:99982826	ZIC2		Holoprosencephaly 5	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 207800439.	NM_007129.5(ZIC2):c.412C>T (p.Leu138=) GRCh37: Chr13:100634730 GRCh38: Chr13:99982476	ZIC2		Holoprosencephaly 5	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 206426540.	NM_007129.5(ZIC2):c.1457G>A (p.Gly486Glu) GRCh37: Chr13:100637794 GRCh38: Chr13:99985540	ZIC2	G486E	Holoprosencephaly 5	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 206414041.	NM_007129.5(ZIC2):c.1392_1400del (p.Ala468_Ala470del) GRCh37: Chr13:100637721-100637729 GRCh38: Chr13:99985467-99985475	ZIC2, LOC110008580		Holoprosencephaly 5	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 206351442.	NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn) GRCh37: Chr13:100635128 GRCh38: Chr13:99982874	ZIC2	K270N	Holoprosencephaly 5	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205869143.	NM_007129.5(ZIC2):c.489A>G (p.Pro163=) GRCh37: Chr13:100634807 GRCh38: Chr13:99982553	ZIC2		Holoprosencephaly 5	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 204029244.	NM_007129.5(ZIC2):c.601C>A (p.Arg201=) GRCh37: Chr13:100634919 GRCh38: Chr13:99982665	ZIC2		Holoprosencephaly 5	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 203795545.	NM_007129.5(ZIC2):c.1239+6A>G GRCh37: Chr13:100637369 GRCh38: Chr13:99985115	ZIC2		Holoprosencephaly 5	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 203735546.	NM_007129.5(ZIC2):c.1068C>G (p.Thr356=) GRCh37: Chr13:100635386 GRCh38: Chr13:99983132	ZIC2		Holoprosencephaly 5	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 203520847.	NM_007129.5(ZIC2):c.1076-18G>A GRCh37: Chr13:100637182 GRCh38: Chr13:99984928	ZIC2		Holoprosencephaly 5	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 203481048.	NM_007129.5(ZIC2):c.722del (p.Gly241fs) GRCh37: Chr13:100635039 GRCh38: Chr13:99982785	ZIC2	G241fs	Holoprosencephaly 5	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 202909549.	NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) GRCh37: Chr13:100637717-100637718 GRCh38: Chr13:99985463-99985464	LOC110008580, ZIC2		Holoprosencephaly 5	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 202531850.	NM_007129.5(ZIC2):c.853A>T (p.Thr285Ser) GRCh37: Chr13:100635171 GRCh38: Chr13:99982917	ZIC2	T285S	Holoprosencephaly 5	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 202346151.	NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter) GRCh37: Chr13:100635229 GRCh38: Chr13:99982975	ZIC2	W304*	Holoprosencephaly 5	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 199479452.	NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del) GRCh37: Chr13:100637320-100637328 GRCh38: Chr13:99985066-99985074	ZIC2		Holoprosencephaly 5	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 199375353.	NM_007129.5(ZIC2):c.1036C>T (p.Arg346Cys) GRCh37: Chr13:100635354 GRCh38: Chr13:99983100	ZIC2	R346C	Holoprosencephaly 5	Uncertain significance (Nov 25, 2021)	criteria provided, single submitter
Select item 199089854.	NM_007129.5(ZIC2):c.54G>T (p.Ala18=) GRCh37: Chr13:100634372 GRCh38: Chr13:99982118	ZIC2		Holoprosencephaly 5	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 198491255.	NM_007129.5(ZIC2):c.1541G>A (p.Ser514Asn) GRCh37: Chr13:100637878 GRCh38: Chr13:99985624	ZIC2	S514N	Holoprosencephaly 5	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 198491056.	NM_007129.5(ZIC2):c.1332C>A (p.Ser444Arg) GRCh37: Chr13:100637669 GRCh38: Chr13:99985415	ZIC2	S444R	Holoprosencephaly 5	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 196741157.	NM_007129.5(ZIC2):c.1239+9G>T GRCh37: Chr13:100637372 GRCh38: Chr13:99985118	ZIC2		Holoprosencephaly 5	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 196681258.	NM_007129.5(ZIC2):c.1251C>T (p.Ser417=) GRCh37: Chr13:100637588 GRCh38: Chr13:99985334	ZIC2		Holoprosencephaly 5	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 196394659.	NM_007129.5(ZIC2):c.1445G>A (p.Ser482Asn) GRCh37: Chr13:100637782 GRCh38: Chr13:99985528	ZIC2	S482N	Holoprosencephaly 5	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 195418160.	NM_007129.5(ZIC2):c.1407_1409dup (p.Ala470_Val471insAla) GRCh37: Chr13:100637741-100637742 GRCh38: Chr13:99985487-99985488	LOC110008580, ZIC2		Holoprosencephaly 5	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 193534661.	NM_007129.5(ZIC2):c.1076-18G>T GRCh37: Chr13:100637182 GRCh38: Chr13:99984928	ZIC2		Holoprosencephaly 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 193520962.	NM_007129.5(ZIC2):c.1377_1391dup (p.Ala470_Val471insAlaAlaAlaAlaAla) GRCh37: Chr13:100637702-100637703 GRCh38: Chr13:99985448-99985449	ZIC2, LOC110008580		Holoprosencephaly 5	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 193206263.	NM_007129.5(ZIC2):c.102G>A (p.Glu34=) GRCh37: Chr13:100634420 GRCh38: Chr13:99982166	ZIC2		Holoprosencephaly 5	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 192680364.	NM_007129.5(ZIC2):c.1308G>A (p.Thr436=) GRCh37: Chr13:100637645 GRCh38: Chr13:99985391	ZIC2		Holoprosencephaly 5	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 192280965.	NM_007129.5(ZIC2):c.6C>T (p.Leu2=) GRCh37: Chr13:100634324 GRCh38: Chr13:99982070	ZIC2		Holoprosencephaly 5	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 191255766.	NM_007129.5(ZIC2):c.1419G>A (p.Ala473=) GRCh37: Chr13:100637756 GRCh38: Chr13:99985502	ZIC2		Holoprosencephaly 5	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 180600267.	NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn) GRCh37: Chr13:100635118 GRCh38: Chr13:99982864	ZIC2	S267N	Holoprosencephaly 5	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 172229168.	NM_007129.5(ZIC2):c.953A>G (p.Tyr318Cys) GRCh37: Chr13:100635271 GRCh38: Chr13:99983017	ZIC2	Y318C	Holoprosencephaly 5	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 171492769.	NM_007129.5(ZIC2):c.167A>C (p.His56Pro) GRCh37: Chr13:100634485 GRCh38: Chr13:99982231	ZIC2	H56P	Holoprosencephaly 5	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 171013470.	NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs) GRCh37: Chr13:100637337-100637340 GRCh38: Chr13:99985083-99985086	ZIC2	P405fs	Holoprosencephaly 5	Likely pathogenic (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169922071.	NM_007129.5(ZIC2):c.718_720del (p.Pro240del) GRCh37: Chr13:100635035-100635037 GRCh38: Chr13:99982781-99982783	ZIC2	P240del	Holoprosencephaly 5	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 168753872.	NM_007129.5(ZIC2):c.856C>T (p.His286Tyr) GRCh37: Chr13:100635174 GRCh38: Chr13:99982920	ZIC2	H286Y	Holoprosencephaly 5	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168639073.	NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del) GRCh37: Chr13:100637701-100637712 GRCh38: Chr13:99985447-99985458	ZIC2, LOC110008580		Holoprosencephaly 5, not specified	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 166556774.	NM_007129.5(ZIC2):c.885G>A (p.Pro295=) GRCh37: Chr13:100635203 GRCh38: Chr13:99982949	ZIC2		Holoprosencephaly 5	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 166534975.	NM_007129.5(ZIC2):c.1146G>A (p.Lys382=) GRCh37: Chr13:100637270 GRCh38: Chr13:99985016	ZIC2		Holoprosencephaly 5	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 165952376.	NM_007129.5(ZIC2):c.261C>T (p.Gly87=) GRCh37: Chr13:100634579 GRCh38: Chr13:99982325	ZIC2		Holoprosencephaly 5	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 165852377.	NM_007129.5(ZIC2):c.692ACC[8] (p.His239del) GRCh37: Chr13:100635008-100635010 GRCh38: Chr13:99982754-99982756	ZIC2	H239del	Holoprosencephaly 5	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 164885878.	NM_007129.5(ZIC2):c.1075+18C>T GRCh37: Chr13:100635411 GRCh38: Chr13:99983157	ZIC2		Holoprosencephaly 5	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 163698579.	NM_007129.5(ZIC2):c.1167C>G (p.Ser389=) GRCh37: Chr13:100637291 GRCh38: Chr13:99985037	ZIC2		Holoprosencephaly 5	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 163057980.	NM_007129.5(ZIC2):c.642C>T (p.Tyr214=) GRCh37: Chr13:100634960 GRCh38: Chr13:99982706	ZIC2		Holoprosencephaly 5	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 162875981.	NM_007129.5(ZIC2):c.297G>A (p.Gly99=) GRCh37: Chr13:100634615 GRCh38: Chr13:99982361	ZIC2		Holoprosencephaly 5	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 162693582.	NM_007129.5(ZIC2):c.957A>G (p.Lys319=) GRCh37: Chr13:100635275 GRCh38: Chr13:99983021	ZIC2		Holoprosencephaly 5	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 162283583.	NM_007129.5(ZIC2):c.1392T>A (p.Ala464=) GRCh37: Chr13:100637729 GRCh38: Chr13:99985475	LOC110008580, ZIC2		Holoprosencephaly 5	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158276184.	NM_007129.5(ZIC2):c.1227G>A (p.Arg409=) GRCh37: Chr13:100637351 GRCh38: Chr13:99985097	ZIC2		Holoprosencephaly 5	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 157962085.	NM_007129.5(ZIC2):c.1587A>G (p.Glu529=) GRCh37: Chr13:100637924 GRCh38: Chr13:99985670	ZIC2		Holoprosencephaly 5	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 156097886.	NM_007129.5(ZIC2):c.552C>G (p.Pro184=) GRCh37: Chr13:100634870 GRCh38: Chr13:99982616	ZIC2		Holoprosencephaly 5	Likely benign (Dec 12, 2020)	criteria provided, single submitter
Select item 154199087.	NM_007129.5(ZIC2):c.687G>A (p.Ala229=) GRCh37: Chr13:100635005 GRCh38: Chr13:99982751	ZIC2		Holoprosencephaly 5	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 152289988.	NM_007129.5(ZIC2):c.1041C>A (p.Ser347=) GRCh37: Chr13:100635359 GRCh38: Chr13:99983105	ZIC2		Holoprosencephaly 5	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 151972389.	NM_007129.5(ZIC2):c.1506G>T (p.Ala502=) GRCh37: Chr13:100637843 GRCh38: Chr13:99985589	ZIC2		Holoprosencephaly 5	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 150888890.	NM_007129.5(ZIC2):c.692ACC[11] (p.His238_His239dup) GRCh37: Chr13:100635007-100635008 GRCh38: Chr13:99982753-99982754	ZIC2		Holoprosencephaly 5	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 149683091.	NM_007129.5(ZIC2):c.1439C>T (p.Ser480Leu) GRCh37: Chr13:100637776 GRCh38: Chr13:99985522	ZIC2	S480L	Holoprosencephaly 5	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 149549892.	NM_007129.5(ZIC2):c.265G>C (p.Ala89Pro) GRCh37: Chr13:100634583 GRCh38: Chr13:99982329	ZIC2	A89P	Holoprosencephaly 5	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 149150593.	NM_007129.5(ZIC2):c.1505_1516dup (p.Ala502_Gly505dup) GRCh37: Chr13:100637831-100637832 GRCh38: Chr13:99985577-99985578	ZIC2		Holoprosencephaly 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 149040494.	NM_007129.5(ZIC2):c.1073C>A (p.Thr358Lys) GRCh37: Chr13:100635391 GRCh38: Chr13:99983137	ZIC2	T358K	Holoprosencephaly 5	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 149032395.	NM_007129.5(ZIC2):c.1501_1524del (p.Gly501_Gly508del) GRCh37: Chr13:100637823-100637846 GRCh38: Chr13:99985569-99985592	ZIC2		Holoprosencephaly 5	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 148634596.	NM_007129.5(ZIC2):c.1563C>A (p.Ser521Arg) GRCh37: Chr13:100637900 GRCh38: Chr13:99985646	ZIC2	S521R	Holoprosencephaly 5	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 147480897.	NM_007129.5(ZIC2):c.1505_1516del (p.Ala502_Gly505del) GRCh37: Chr13:100637832-100637843 GRCh38: Chr13:99985578-99985589	ZIC2		Holoprosencephaly 5	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 147236298.	NM_007129.5(ZIC2):c.14C>T (p.Ala5Val) GRCh37: Chr13:100634332 GRCh38: Chr13:99982078	ZIC2	A5V	Holoprosencephaly 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 147080099.	NM_007129.5(ZIC2):c.1243del (p.His415fs) GRCh37: Chr13:100637579 GRCh38: Chr13:99985325	ZIC2	H415fs	Holoprosencephaly 5	Likely pathogenic (Oct 25, 2021)	criteria provided, single submitter
Select item 1467316100.	NM_007129.5(ZIC2):c.1330A>G (p.Ser444Gly) GRCh37: Chr13:100637667 GRCh38: Chr13:99985413	ZIC2	S444G	Holoprosencephaly 5	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter

<< First< Prev

Page of 3