ClinVar for MedGen (Select 337547) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443061.	NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs) GRCh37: ChrX:39922283-39922284 GRCh38: ChrX:40063030-40063031	BCOR	S1245fs, S1263fs, S1297fs	Oculofaciocardiodental syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24419072.	NM_001123385.2(BCOR):c.206C>T (p.Ala69Val) GRCh37: ChrX:39934393 GRCh38: ChrX:40075140	BCOR	A69V	Oculofaciocardiodental syndrome	Uncertain significance (Mar 25, 2021)	criteria provided, single submitter
Select item 24416873.	NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG GRCh37: ChrX:39911655-39911657 GRCh38: ChrX:40052402-40052404	BCOR		Oculofaciocardiodental syndrome	Likely pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 24394954.	NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile) GRCh37: ChrX:39932427 GRCh38: ChrX:40073174	BCOR	M724I	Oculofaciocardiodental syndrome	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 24394945.	NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser) GRCh37: ChrX:39922224 GRCh38: ChrX:40062971	BCOR	R1264S, R1282S, R1316S	Oculofaciocardiodental syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 24394936.	NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser) GRCh37: ChrX:39922924 GRCh38: ChrX:40063671	BCOR	A1210S, A1228S, A1262S	Oculofaciocardiodental syndrome	Uncertain significance (Feb 24, 2020)	criteria provided, single submitter
Select item 24263477.	NC_000023.10:g.(?_39921372)_(39923872_?)del GRCh37: ChrX:39921372-39923872	BCOR		Oculofaciocardiodental syndrome	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 24217248.	NM_001123385.2(BCOR):c.4596-10C>G GRCh37: ChrX:39914776 GRCh38: ChrX:40055523	BCOR		Oculofaciocardiodental syndrome	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 21999269.	NM_001123385.2(BCOR):c.59T>C (p.Val20Ala) GRCh37: ChrX:39937124 GRCh38: ChrX:40077871	BCOR	V20A	Oculofaciocardiodental syndrome	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 219356410.	NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser) GRCh37: ChrX:39923745 GRCh38: ChrX:40064492	BCOR	P1098S, P1116S	Oculofaciocardiodental syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219311511.	NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys) GRCh37: ChrX:39934195 GRCh38: ChrX:40074942	BCOR	S135C	Oculofaciocardiodental syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 218268512.	NM_001123385.2(BCOR):c.2691G>T (p.Ser897=) GRCh37: ChrX:39931908 GRCh38: ChrX:40072655	BCOR		Oculofaciocardiodental syndrome	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 217860213.	NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His) GRCh37: ChrX:39921558 GRCh38: ChrX:40062305	BCOR	R1387H, R1369H, R1421H	Oculofaciocardiodental syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 217442514.	NM_001123385.2(BCOR):c.442A>G (p.Ile148Val) GRCh37: ChrX:39934157 GRCh38: ChrX:40074904	BCOR, LOC126863239	I148V	Oculofaciocardiodental syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 217417415.	NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu) GRCh37: ChrX:39911630 GRCh38: ChrX:40052377	BCOR	S1615L, S1633L, S1667L	Oculofaciocardiodental syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 217376616.	NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala) GRCh37: ChrX:39921493 GRCh38: ChrX:40062240	BCOR	T1391A, T1409A, T1443A	Oculofaciocardiodental syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 217007217.	NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp) GRCh37: ChrX:39922049 GRCh38: ChrX:40062796	BCOR	R1323W, R1341W, R1375W	Oculofaciocardiodental syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 215579018.	NM_001123385.2(BCOR):c.2235G>A (p.Arg745=) GRCh37: ChrX:39932364 GRCh38: ChrX:40073111	BCOR		Oculofaciocardiodental syndrome	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 215266519.	NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile) GRCh37: ChrX:39923705 GRCh38: ChrX:40064452	BCOR	T1111I, T1129I	Oculofaciocardiodental syndrome	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 215234020.	NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter) GRCh37: ChrX:39930311 GRCh38: ChrX:40071058	BCOR	W1051, W1033	Oculofaciocardiodental syndrome	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 214925021.	NM_001123385.2(BCOR):c.1449G>A (p.Pro483=) GRCh37: ChrX:39933150 GRCh38: ChrX:40073897	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214168222.	NM_001123385.2(BCOR):c.387C>A (p.Pro129=) GRCh37: ChrX:39934212 GRCh38: ChrX:40074959	BCOR		Oculofaciocardiodental syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214051323.	NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=) GRCh37: ChrX:39914718 GRCh38: ChrX:40055465	BCOR		Oculofaciocardiodental syndrome	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 213821024.	NM_001123385.2(BCOR):c.2091C>G (p.Ala697=) GRCh37: ChrX:39932508 GRCh38: ChrX:40073255	BCOR		Oculofaciocardiodental syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 211637025.	NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser) GRCh37: ChrX:39932737 GRCh38: ChrX:40073484	BCOR	N621S	Oculofaciocardiodental syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 210935326.	NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=) GRCh37: ChrX:39923641 GRCh38: ChrX:40064388	BCOR		Oculofaciocardiodental syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 210925127.	NM_001123385.2(BCOR):c.1233del (p.Lys412fs) GRCh37: ChrX:39933366 GRCh38: ChrX:40074113	BCOR, LOC126863239	K412fs	Oculofaciocardiodental syndrome	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 210183028.	NM_001123385.2(BCOR):c.4742-2A>G GRCh37: ChrX:39913588 GRCh38: ChrX:40054335	BCOR		Oculofaciocardiodental syndrome	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 209897329.	NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=) GRCh37: ChrX:39921539 GRCh38: ChrX:40062286	BCOR		Oculofaciocardiodental syndrome	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 209418630.	NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter) GRCh37: ChrX:39933677 GRCh38: ChrX:40074424	BCOR, LOC126863239	Q308*	Oculofaciocardiodental syndrome	Pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 208553331.	NM_001123385.2(BCOR):c.2997+12dup GRCh37: ChrX:39931589-39931590 GRCh38: ChrX:40072336-40072337	BCOR		Oculofaciocardiodental syndrome	Benign (Mar 2, 2022)	criteria provided, single submitter
Select item 208448632.	NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=) GRCh37: ChrX:39931992 GRCh38: ChrX:40072739	BCOR		Oculofaciocardiodental syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 208285633.	NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=) GRCh37: ChrX:39923075 GRCh38: ChrX:40063822	BCOR		Oculofaciocardiodental syndrome	Benign (Jun 14, 2022)	criteria provided, single submitter
Select item 208155034.	NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg) GRCh37: ChrX:39932203 GRCh38: ChrX:40072950	BCOR	K799R	Inborn genetic diseases, Oculofaciocardiodental syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208143735.	NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys) GRCh37: ChrX:39922163 GRCh38: ChrX:40062910	BCOR	E1285K, E1303K, E1337K	Oculofaciocardiodental syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 207525936.	NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val) GRCh37: ChrX:39930345 GRCh38: ChrX:40071092	BCOR	D1022V, D1040V	Oculofaciocardiodental syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 207495737.	NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu) GRCh37: ChrX:39913172 GRCh38: ChrX:40053919	BCOR	P1596L, P1614L, P1648L	Inborn genetic diseases, Oculofaciocardiodental syndrome	Conflicting interpretations of pathogenicity (Mar 14, 2023)	criteria provided, conflicting interpretations
Select item 206795338.	NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His) GRCh37: ChrX:39923684 GRCh38: ChrX:40064431	BCOR	R1136H, R1118H	Oculofaciocardiodental syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 206777139.	NM_001123385.2(BCOR):c.2461G>A (p.Val821Met) GRCh37: ChrX:39932138 GRCh38: ChrX:40072885	BCOR	V821M	Oculofaciocardiodental syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 204740340.	NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg) GRCh37: ChrX:39913568 GRCh38: ChrX:40054315	BCOR	Q1587R, Q1553R, Q1535R	Oculofaciocardiodental syndrome	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 204542941.	NM_001123385.2(BCOR):c.977C>T (p.Pro326Leu) GRCh37: ChrX:39933622 GRCh38: ChrX:40074369	BCOR, LOC126863239	P326L	Oculofaciocardiodental syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 204439342.	NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=) GRCh37: ChrX:39922961 GRCh38: ChrX:40063708	BCOR		Oculofaciocardiodental syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 204364243.	NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys) GRCh37: ChrX:39923751 GRCh38: ChrX:40064498	BCOR	E1114K, E1096K	Oculofaciocardiodental syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 203781444.	NM_001123385.2(BCOR):c.2997+12del GRCh37: ChrX:39931590 GRCh38: ChrX:40072337	BCOR		Oculofaciocardiodental syndrome	Benign (Oct 5, 2022)	criteria provided, single submitter
Select item 199584545.	NM_001123385.2(BCOR):c.799C>G (p.Leu267Val) GRCh37: ChrX:39933800 GRCh38: ChrX:40074547	BCOR, LOC126863239	L267V	Oculofaciocardiodental syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 199584446.	NM_001123385.2(BCOR):c.986C>G (p.Thr329Arg) GRCh37: ChrX:39933613 GRCh38: ChrX:40074360	BCOR, LOC126863239	T329R	Oculofaciocardiodental syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 199584347.	NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg) GRCh37: ChrX:39932691 GRCh38: ChrX:40073438	BCOR	S636R	Oculofaciocardiodental syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 199241348.	NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter) GRCh37: ChrX:39934073 GRCh38: ChrX:40074820	BCOR, LOC126863239	Q176*	Oculofaciocardiodental syndrome	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 198281449.	NM_001123385.2(BCOR):c.87-19G>A GRCh37: ChrX:39935804 GRCh38: ChrX:40076551	BCOR		Oculofaciocardiodental syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 197701350.	NM_001123385.2(BCOR):c.1321C>T (p.Leu441=) GRCh37: ChrX:39933278 GRCh38: ChrX:40074025	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 196035151.	NM_001123385.2(BCOR):c.2691G>A (p.Ser897=) GRCh37: ChrX:39931908 GRCh38: ChrX:40072655	BCOR		Oculofaciocardiodental syndrome	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 195222852.	NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=) GRCh37: ChrX:39922236 GRCh38: ChrX:40062983	BCOR		Oculofaciocardiodental syndrome	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 191000153.	NM_001123385.2(BCOR):c.4578T>C (p.Ser1526=) GRCh37: ChrX:39916425 GRCh38: ChrX:40057172	BCOR		Oculofaciocardiodental syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 180518954.	NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs) GRCh37: ChrX:39930298-39930299 GRCh38: ChrX:40071045-40071046	BCOR	K1037fs, K1055fs	Oculofaciocardiodental syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 180136655.	NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter) GRCh37: ChrX:39934041 GRCh38: ChrX:40074788	BCOR, LOC126863239	Y186*	Oculofaciocardiodental syndrome	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 174426656.	NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro) GRCh37: ChrX:39934106 GRCh38: ChrX:40074853	BCOR, LOC126863239	A165P	Oculofaciocardiodental syndrome, Inborn genetic diseases	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171964857.	NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val) GRCh37: ChrX:39911486 GRCh38: ChrX:40052233	BCOR	A1663V, A1681V, A1715V	Oculofaciocardiodental syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 171920958.	NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile) GRCh37: ChrX:39934216 GRCh38: ChrX:40074963	BCOR	T128I	Oculofaciocardiodental syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 171119959.	NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro) GRCh37: ChrX:39930411 GRCh38: ChrX:40071158	BCOR	R1000P, R1018P	Oculofaciocardiodental syndrome	Uncertain significance	no assertion criteria provided
Select item 169665760.	NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) GRCh37: ChrX:39931877 GRCh38: ChrX:40072624	BCOR	D908N	Oculofaciocardiodental syndrome	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 168761761.	NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs) GRCh37: ChrX:39923669-39923687 GRCh38: ChrX:40064416-40064434	BCOR	K1117fs, K1135fs	Oculofaciocardiodental syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167931762.	NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) GRCh37: ChrX:39921491-39921492 GRCh38: ChrX:40062238-40062239	BCOR	T1391fs, T1409fs, T1443fs	Oculofaciocardiodental syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167678163.	NM_001123385.2(BCOR):c.1529dup (p.Val511fs) GRCh37: ChrX:39933069-39933070 GRCh38: ChrX:40073816-40073817	BCOR, LOC126863239	V511fs	Oculofaciocardiodental syndrome	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 164445764.	NM_001123385.2(BCOR):c.4173+13C>A GRCh37: ChrX:39921986 GRCh38: ChrX:40062733	BCOR		Oculofaciocardiodental syndrome	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 163543365.	NM_001123385.2(BCOR):c.699G>A (p.Leu233=) GRCh37: ChrX:39933900 GRCh38: ChrX:40074647	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Jun 7, 2021)	criteria provided, single submitter
Select item 162520466.	NM_001123385.2(BCOR):c.3847+17C>T GRCh37: ChrX:39922844 GRCh38: ChrX:40063591	BCOR		Oculofaciocardiodental syndrome	Likely benign (Jan 1, 2021)	criteria provided, single submitter
Select item 162505767.	NM_001123385.2(BCOR):c.3502+19G>A GRCh37: ChrX:39923570 GRCh38: ChrX:40064317	BCOR		Oculofaciocardiodental syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 162058368.	NM_001123385.2(BCOR):c.4008C>T (p.Asp1336=) GRCh37: ChrX:39922164 GRCh38: ChrX:40062911	BCOR		Oculofaciocardiodental syndrome	Benign (Jun 4, 2021)	criteria provided, single submitter
Select item 160040069.	NM_001123385.2(BCOR):c.4174-20G>A GRCh37: ChrX:39921666 GRCh38: ChrX:40062413	BCOR		Oculofaciocardiodental syndrome	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 159942970.	NM_001123385.2(BCOR):c.3813G>A (p.Ser1271=) GRCh37: ChrX:39922895 GRCh38: ChrX:40063642	BCOR		Oculofaciocardiodental syndrome	Benign (Jun 4, 2022)	criteria provided, single submitter
Select item 159212771.	NM_001123385.2(BCOR):c.1707C>T (p.Ser569=) GRCh37: ChrX:39932892 GRCh38: ChrX:40073639	BCOR		Oculofaciocardiodental syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158687672.	NM_001123385.2(BCOR):c.981G>A (p.Gly327=) GRCh37: ChrX:39933618 GRCh38: ChrX:40074365	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 158507173.	NM_001123385.2(BCOR):c.86+8C>G GRCh37: ChrX:39937089 GRCh38: ChrX:40077836	BCOR		Oculofaciocardiodental syndrome	Likely benign (Sep 4, 2021)	criteria provided, single submitter
Select item 158131774.	NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=) GRCh37: ChrX:39911572 GRCh38: ChrX:40052319	BCOR		Oculofaciocardiodental syndrome	Benign (Jun 5, 2022)	criteria provided, single submitter
Select item 157730975.	NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) GRCh37: ChrX:39922020 GRCh38: ChrX:40062767	BCOR		Oculofaciocardiodental syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 157218776.	NM_001123385.2(BCOR):c.627G>A (p.Ser209=) GRCh37: ChrX:39933972 GRCh38: ChrX:40074719	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 157002677.	NM_001123385.2(BCOR):c.1578G>A (p.Ser526=) GRCh37: ChrX:39933021 GRCh38: ChrX:40073768	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 155911978.	NM_001123385.2(BCOR):c.2694T>G (p.Thr898=) GRCh37: ChrX:39931905 GRCh38: ChrX:40072652	BCOR		Oculofaciocardiodental syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 155801479.	NM_001123385.2(BCOR):c.594T>C (p.Gly198=) GRCh37: ChrX:39934005 GRCh38: ChrX:40074752	BCOR, LOC126863239		Oculofaciocardiodental syndrome	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 155687780.	NM_001123385.2(BCOR):c.4428+16C>T GRCh37: ChrX:39921376 GRCh38: ChrX:40062123	BCOR		Oculofaciocardiodental syndrome	Likely benign (Nov 17, 2021)	criteria provided, single submitter
Select item 154657981.	NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu) GRCh37: ChrX:39934357 GRCh38: ChrX:40075104	BCOR	G81E	Inborn genetic diseases, Oculofaciocardiodental syndrome	Benign/Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154482082.	NM_001123385.2(BCOR):c.267C>G (p.Val89=) GRCh37: ChrX:39934332 GRCh38: ChrX:40075079	BCOR		Oculofaciocardiodental syndrome	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 153348883.	NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn) GRCh37: ChrX:39932948 GRCh38: ChrX:40073695	BCOR	D551N	Oculofaciocardiodental syndrome	Benign (Apr 21, 2021)	criteria provided, single submitter
Select item 150900484.	NM_001123385.2(BCOR):c.947C>A (p.Pro316His) GRCh37: ChrX:39933652 GRCh38: ChrX:40074399	BCOR, LOC126863239	P316H	Oculofaciocardiodental syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 149681485.	NM_001123385.2(BCOR):c.438T>A (p.Ser146Arg) GRCh37: ChrX:39934161 GRCh38: ChrX:40074908	BCOR, LOC126863239	S146R	Oculofaciocardiodental syndrome	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 149340486.	NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val) GRCh37: ChrX:39922096 GRCh38: ChrX:40062843	BCOR	G1359V, G1325V, G1307V	Oculofaciocardiodental syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 148936587.	NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu) GRCh37: ChrX:39922300 GRCh38: ChrX:40063047	BCOR	P1291L, P1239L, P1257L	Oculofaciocardiodental syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 146103788.	NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala) GRCh37: ChrX:39932618 GRCh38: ChrX:40073365	BCOR	P661A	Oculofaciocardiodental syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 145038789.	NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn) GRCh37: ChrX:39922185 GRCh38: ChrX:40062932	BCOR	K1329N, K1277N, K1295N	Oculofaciocardiodental syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 144157390.	NM_001123385.2(BCOR):c.578A>G (p.Asn193Ser) GRCh37: ChrX:39934021 GRCh38: ChrX:40074768	BCOR, LOC126863239	N193S	Oculofaciocardiodental syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 143976391.	NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu) GRCh37: ChrX:39923800 GRCh38: ChrX:40064547	BCOR	D1079E, D1097E	Oculofaciocardiodental syndrome	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 143411692.	NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp) GRCh37: ChrX:39934364 GRCh38: ChrX:40075111	BCOR	R79W	Oculofaciocardiodental syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 141622193.	NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His) GRCh37: ChrX:39923825 GRCh38: ChrX:40064572	BCOR	R1071H, R1089H	Oculofaciocardiodental syndrome	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 141520094.	NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg) GRCh37: ChrX:39931810 GRCh38: ChrX:40072557	BCOR	P930R	Oculofaciocardiodental syndrome	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 141427695.	NM_001123385.2(BCOR):c.1064C>T (p.Ser355Leu) GRCh37: ChrX:39933535 GRCh38: ChrX:40074282	BCOR, LOC126863239	S355L	Oculofaciocardiodental syndrome	Uncertain significance (Sep 20, 2021)	criteria provided, single submitter
Select item 140913296.	NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn) GRCh37: ChrX:39934423 GRCh38: ChrX:40075170	BCOR	S59N	Oculofaciocardiodental syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 140603197.	NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del) GRCh37: ChrX:39913550-39913552 GRCh38: ChrX:40054297-40054299	BCOR	D1593del, D1559del, D1541del	Oculofaciocardiodental syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 140081698.	NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys) GRCh37: ChrX:39932689 GRCh38: ChrX:40073436	BCOR	S637C	Oculofaciocardiodental syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 139496299.	NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del) GRCh37: ChrX:39911625-39911627 GRCh38: ChrX:40052372-40052374	BCOR	D1634del, D1616del, D1668del	Oculofaciocardiodental syndrome	Uncertain significance (Nov 25, 2021)	criteria provided, single submitter
Select item 1384162100.	NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln) GRCh37: ChrX:39923699 GRCh38: ChrX:40064446	BCOR	R1113Q, R1131Q	Oculofaciocardiodental syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter

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