ClinVar for Gene (Select 54880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382752	NM_001123385.2(BCOR):c.165+2T>C	BCOR	Single nucleotide variant (splice donor variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 3378076	NM_001123385.2(BCOR):c.3812C>T (p.Ser1271Leu)	BCOR (S1219L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375969	NM_001123385.2(BCOR):c.4606G>A (p.Asp1536Asn)	BCOR (D1484N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375898	NM_001123385.2(BCOR):c.3257A>G (p.Asn1086Ser)	BCOR (N1068S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375476	NM_001123385.2(BCOR):c.3976_3979del (p.Glu1326fs)	BCOR (E1274fs +2 more)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 3373692	NM_001123385.2(BCOR):c.1516C>T (p.Pro506Ser)	BCOR, LOC126863239 (P506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373136	NM_001123385.2(BCOR):c.2011C>T (p.Leu671Phe)	BCOR (L671F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372360	NM_001123385.2(BCOR):c.928A>G (p.Ser310Gly)	BCOR, LOC126863239 (S310G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369893	NM_001123385.2(BCOR):c.1922C>T (p.Ser641Phe)	BCOR (S641F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369454	NM_001123385.2(BCOR):c.4648C>T (p.Leu1550Phe)	BCOR (L1498F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368139	NM_001123385.2(BCOR):c.5032C>G (p.Arg1678Gly)	BCOR (R1626G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367438	NM_001123385.2(BCOR):c.2065G>A (p.Gly689Ser)	BCOR (G689S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364566	NM_001123385.2(BCOR):c.70G>A (p.Gly24Arg)	BCOR (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362179	NM_001123385.2(BCOR):c.3298C>A (p.Leu1100Ile)	BCOR (L1082I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358305	NM_001123385.2(BCOR):c.3090_3093dup (p.Glu1032fs)	BCOR (E1014fs +1 more)	Microsatellite (frameshift variant)	BCOR-related disorder	GPathogenic
Select item 3357316	NM_001123385.2(BCOR):c.590A>G (p.Glu197Gly)	BCOR, LOC126863239 (E197G)	Single nucleotide variant (missense variant)	BCOR-related disorder	GUncertain significance
Select item 3354684	NM_001123385.2(BCOR):c.3848-1G>C	BCOR	Single nucleotide variant (splice acceptor variant)	BCOR-related disorder	GLikely pathogenic
Select item 3349452	NM_001123385.2(BCOR):c.494C>T (p.Ala165Val)	BCOR, LOC126863239 (A165V)	Single nucleotide variant (missense variant)	BCOR-related disorder	GLikely benign
Select item 3342770	NM_001123385.2(BCOR):c.4756C>T (p.Leu1586Phe)	BCOR (L1534F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260715	NM_001123385.2(BCOR):c.3424A>G (p.Ser1142Gly)	BCOR (S1142G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3260714	NM_001123385.2(BCOR):c.3488G>A (p.Arg1163Gln)	BCOR (R1145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256983	NM_001123385.2(BCOR):c.2429G>T (p.Arg810Leu)	BCOR (R810L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254717	NM_001123385.2(BCOR):c.473G>C (p.Ser158Thr)	BCOR, LOC126863239 (S158T)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GLikely benign
Select item 3254715	NM_001123385.2(BCOR):c.2545_2623del (p.His849fs)	BCOR (H849fs)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 3253275	NM_001123385.2(BCOR):c.5129C>A (p.Ser1710Tyr)	BCOR (S1658Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253119	NM_001123385.2(BCOR):c.4902C>A (p.Ser1634Arg)	BCOR (S1582R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252504	NM_001123385.2(BCOR):c.1595T>C (p.Leu532Ser)	BCOR, LOC126863239 (L532S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252474	NM_001123385.2(BCOR):c.5027C>T (p.Ser1676Phe)	BCOR (S1624F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242408	NM_001123385.2(BCOR):c.2382del (p.Lys795fs)	BCOR (K795fs)	Deletion (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 3242269	NM_001123385.2(BCOR):c.3914dup (p.Gln1306fs)	BCOR (Q1254fs +2 more)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GPathogenic
Select item 3239618	NM_001123385.2(BCOR):c.4957_4968delinsTTACCATGTTATAACAT (p.Gln1653fs)	BCOR (Q1601fs +2 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3237369	NM_001123385.2(BCOR):c.1660A>T (p.Ile554Phe)	BCOR (I554F)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 3236708	NM_001123385.2(BCOR):c.1539dup (p.Pro514fs)	BCOR, LOC126863239 (P514fs)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome (OFCD)	GLikely pathogenic
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 3234831	NM_001123385.2(BCOR):c.2457_2476delinsTC (p.Asn820_Phe826delinsLeu)	BCOR	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3133549	NM_001123385.2(BCOR):c.5240G>T (p.Ser1747Ile)	BCOR (S1695I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133548	NM_001123385.2(BCOR):c.5057A>G (p.Asn1686Ser)	BCOR (N1634S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133547	NM_001123385.2(BCOR):c.5041C>T (p.Arg1681Cys)	BCOR (R1681C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133546	NM_001123385.2(BCOR):c.4828G>C (p.Asp1610His)	BCOR (D1576H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133545	NM_001123385.2(BCOR):c.4561G>A (p.Ala1521Thr)	BCOR (A1469T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133544	NM_001123385.2(BCOR):c.4099C>T (p.His1367Tyr)	BCOR (H1315Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133543	NM_001123385.2(BCOR):c.3650G>A (p.Arg1217Gln)	BCOR (R1165Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133542	NM_001123385.2(BCOR):c.3372G>A (p.Met1124Ile)	BCOR (M1124I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133541	NM_001123385.2(BCOR):c.2364C>G (p.Asn788Lys)	BCOR (N788K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133540	NM_001123385.2(BCOR):c.2060C>G (p.Pro687Arg)	BCOR (P687R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133539	NM_001123385.2(BCOR):c.1579C>A (p.Leu527Met)	BCOR, LOC126863239 (L527M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133538	NM_001123385.2(BCOR):c.1074C>G (p.His358Gln)	BCOR, LOC126863239 (H358Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068935	NM_001123385.2(BCOR):c.3873G>A (p.Pro1291=)	BCOR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3061256	NM_001123385.2(BCOR):c.1111G>C (p.Ala371Pro)	BCOR, LOC126863239 (A371P)	Single nucleotide variant (missense variant)	BCOR-related disorder	GUncertain significance
Select item 3051060	NM_001123385.2(BCOR):c.86+6T>C	BCOR	Single nucleotide variant (intron variant)	BCOR-related disorder	GLikely benign
Select item 3047369	NM_001123385.2(BCOR):c.1779C>T (p.Ser593=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related disorder	GLikely benign
Select item 3038655	NM_001123385.2(BCOR):c.820C>G (p.Pro274Ala)	LOC126863239, BCOR (P274A)	Single nucleotide variant (missense variant)	BCOR-related disorder	GUncertain significance
Select item 3035593	NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related disorder	GLikely benign
Select item 3033835	NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related disorder	GLikely benign
Select item 3032468	NM_001123385.2(BCOR):c.590_591del (p.Glu197fs)	BCOR, LOC126863239 (E197fs)	Deletion (frameshift variant)	BCOR-related disorder	GLikely pathogenic
Select item 3032039	NM_001123385.2(BCOR):c.5014A>G (p.Lys1672Glu)	BCOR (K1620E +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder	GUncertain significance
Select item 3031991	NM_001123385.2(BCOR):c.4891G>A (p.Asp1631Asn)	BCOR (D1579N +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder	GLikely benign
Select item 3030777	NM_001123385.2(BCOR):c.4908G>A (p.Val1636=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related disorder	GLikely benign
Select item 3030235	NM_001123385.2(BCOR):c.3801C>G (p.Asn1267Lys)	BCOR (N1215K +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder	GLikely benign
Select item 3026805	NM_001123385.2(BCOR):c.4500_4504del (p.Ala1500_Leu1501insTer)	BCOR	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3026745	NM_001123385.2(BCOR):c.5052T>G (p.Phe1684Leu)	BCOR (F1632L +2 more)	Single nucleotide variant (missense variant)	not provided	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)	Oculofaciocardiodental syndrome	GBenign
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	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

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