ClinVar for MedGen (Select 337547) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235965	NM_001123385.2(BCOR):c.3232G>T (p.Glu1078Ter)	BCOR (E1060* +1 more)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 3066263	NM_001123385.2(BCOR):c.4904A>G (p.Asp1635Gly)	BCOR (D1583G +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 3024068	NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu)	BCOR (Q1254L +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 3015126	NM_001123385.2(BCOR):c.4173+8T>C	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 3010065	NM_001123385.2(BCOR):c.2917G>A (p.Val973Met)	BCOR (V973M)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 3003336	NM_001123385.2(BCOR):c.1306G>A (p.Val436Ile)	BCOR, LOC126863239 (V436I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2996804	NM_001123385.2(BCOR):c.3052-13G>A	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2991885	NM_001123385.2(BCOR):c.4976+17T>C	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2984651	NM_001123385.2(BCOR):c.4595+9T>G	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2983999	NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile)	BCOR (T1219I +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2969936	NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)	BCOR (S1643P +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2954636	NM_001123385.2(BCOR):c.1260T>A (p.Asp420Glu)	BCOR, LOC126863239 (D420E)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2919121	NM_001123385.2(BCOR):c.3239-6C>T	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2914059	NM_001123385.2(BCOR):c.1557G>C (p.Glu519Asp)	BCOR, LOC126863239 (E519D)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2911298	NM_001123385.2(BCOR):c.3848-20G>A	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2904557	NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe)	BCOR (S1298F +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder +1 more	GBenign/Likely benign
Select item 2903345	NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln)	BCOR (P634Q)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2901475	NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr)	BCOR (P663T)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2900399	NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2899819	NM_001123385.2(BCOR):c.1034T>A (p.Leu345His)	BCOR, LOC126863239 (L345H)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2894850	NM_001123385.2(BCOR):c.2265C>T (p.Tyr755=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2891677	NM_001123385.2(BCOR):c.3225C>T (p.Asn1075=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2884144	NM_001123385.2(BCOR):c.793A>G (p.Met265Val)	BCOR, LOC126863239 (M265V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2877194	NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2864109	NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs)	BCOR (R1469fs +2 more)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2856339	NM_001123385.2(BCOR):c.2460C>T (p.Asn820=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2851708	NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2851120	NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2851006	NM_001123385.2(BCOR):c.456G>A (p.Pro152=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GLikely benign
Select item 2850981	NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs)	BCOR (R1165fs +2 more)	Indel (frameshift variant +2 more)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2849117	NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del)	BCOR	Deletion (inframe_deletion)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2826046	NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly)	BCOR (S834G)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2820321	NM_001123385.2(BCOR):c.821dup (p.Ala275fs)	BCOR, LOC126863239 (A275fs)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2818442	NM_001123385.2(BCOR):c.4741+8A>G	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2791110	NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val)	BCOR (I638V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2757264	NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2757185	NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala)	BCOR (P1277A +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2749835	NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)	BCOR (V1047fs +1 more)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2748790	NM_001123385.2(BCOR):c.111C>T (p.Asp37=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2739856	NM_001123385.2(BCOR):c.831G>A (p.Pro277=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2738273	NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2737205	NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)	BCOR (E1348fs +2 more)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2730564	NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn)	BCOR (D1355N +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2721796	NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu)	BCOR (D807E)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2720002	NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile)	BCOR (N784I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2719073	NM_001123385.2(BCOR):c.563G>A (p.Arg188Gln)	BCOR, LOC126863239 (R188Q)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2718677	NM_001123385.2(BCOR):c.4560C>T (p.Gly1520=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2713218	NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly)	BCOR, LOC126863239 (R342G)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2698525	NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys)	BCOR (E836K)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2688667	NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)	BCOR, LOC126863239 (A330V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GConflicting classifications of pathogenicity
Select item 2688666	NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp)	BCOR, LOC126863239 (R411W)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2688665	NM_001123385.2(BCOR):c.184C>T (p.His62Tyr)	BCOR (H62Y)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2663776	NM_001123385.2(BCOR):c.4799dup (p.Tyr1601fs)	BCOR (Y1549fs +2 more)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2628325	NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)	BCOR (P1093A +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2626865	NM_001123385.2(BCOR):c.1526G>A (p.Trp509Ter)	BCOR, LOC126863239 (W509*)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2585518	NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr)	BCOR (A38T)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2584362	NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)	BCOR (Q995*)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2582349	NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs)	BCOR (L1162fs +2 more)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2574149	NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)	BCOR (E1014fs +1 more)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2574038	NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)	BCOR (Q1101* +1 more)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2444306	NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs)	BCOR (S1245fs +2 more)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2441907	NM_001123385.2(BCOR):c.206C>T (p.Ala69Val)	BCOR (A69V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2441687	NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG	BCOR	Indel (splice acceptor variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2439495	NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile)	BCOR (M724I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2439494	NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser)	BCOR (R1264S +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2439493	NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)	BCOR (A1210S +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 2426347	NC_000023.10:g.(?_39921372)_(39923872_?)del	BCOR	Deletion	Oculofaciocardiodental syndrome	GPathogenic
Select item 2421724	NM_001123385.2(BCOR):c.4596-10C>G	BCOR	Single nucleotide variant (intron variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2199926	NM_001123385.2(BCOR):c.59T>C (p.Val20Ala)	BCOR (V20A)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2193564	NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)	BCOR (P1098S +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2193115	NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys)	BCOR (S135C)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2182685	NM_001123385.2(BCOR):c.2691G>T (p.Ser897=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 2178602	NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His)	BCOR (R1387H +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2174425	NM_001123385.2(BCOR):c.442A>G (p.Ile148Val)	BCOR, LOC126863239 (I148V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2174174	NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu)	BCOR (S1615L +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2173766	NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala)	BCOR (T1391A +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2170072	NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp)	BCOR (R1323W +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2155790	NM_001123385.2(BCOR):c.2235G>A (p.Arg745=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2152665	NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile)	BCOR (T1111I +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2152340	NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)	BCOR (W1051* +1 more)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2149250	NM_001123385.2(BCOR):c.1449G>A (p.Pro483=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2141682	NM_001123385.2(BCOR):c.387C>A (p.Pro129=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2140513	NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2138210	NM_001123385.2(BCOR):c.2091C>G (p.Ala697=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2116370	NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser)	BCOR (N621S)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2109353	NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2109251	NM_001123385.2(BCOR):c.1233del (p.Lys412fs)	BCOR, LOC126863239 (K412fs)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2101830	NM_001123385.2(BCOR):c.4742-2A>G	BCOR	Single nucleotide variant (splice acceptor variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2098973	NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GBenign/Likely benign
Select item 2094186	NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter)	BCOR, LOC126863239 (Q308*)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2085533	NM_001123385.2(BCOR):c.2997+12dup	BCOR	Duplication (intron variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2084486	NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 2082856	NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2081550	NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)	BCOR (K799R)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GUncertain significance
Select item 2081437	NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys)	BCOR (E1285K +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2075259	NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val)	BCOR (D1022V +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2074957	NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)	BCOR (P1596L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2067953	NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His)	BCOR (R1136H +1 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2067771	NM_001123385.2(BCOR):c.2461G>A (p.Val821Met)	BCOR (V821M)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2047403	NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg)	BCOR (Q1587R +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance

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