ClinVar for Gene (Select 54880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GUncertain significance
Select item 3051060	NM_001123385.2(BCOR):c.86+6T>C	BCOR	Single nucleotide variant (intron variant)	BCOR-related condition	GLikely benign
Select item 3047369	NM_001123385.2(BCOR):c.1779C>T (p.Ser593=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related condition	GLikely benign
Select item 3038655	NM_001123385.2(BCOR):c.820C>G (p.Pro274Ala)	LOC126863239, BCOR (P274A)	Single nucleotide variant (missense variant)	BCOR-related condition	GUncertain significance
Select item 3035593	NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related condition	GLikely benign
Select item 3033835	NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related condition	GLikely benign
Select item 3032468	NM_001123385.2(BCOR):c.590_591del (p.Glu197fs)	BCOR, LOC126863239 (E197fs)	Deletion (frameshift variant)	BCOR-related condition	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 condition	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 condition	GLikely benign
Select item 3030777	NM_001123385.2(BCOR):c.4908G>A (p.Val1636=)	BCOR	Single nucleotide variant (synonymous variant)	BCOR-related condition	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 condition	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 +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)	BCOR-related condition +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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2673224	NM_001123385.2(BCOR):c.1083T>C (p.Tyr361=)	BCOR, LOC126863239	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663776	NM_001123385.2(BCOR):c.4799dup (p.Tyr1601fs)	BCOR (Y1549fs +2 more)	Duplication (frameshift variant)	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 2663630	NM_001123385.2(BCOR):c.4522G>A (p.Gly1508Ser)	BCOR (G1456S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661962	NM_001123385.2(BCOR):c.4468G>A (p.Val1490Ile)	BCOR (V1438I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660318	NM_001123383.1(BCOR):c.-40-27233dup	BCOR, LOC107985687	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2660317	NM_001123385.2(BCOR):c.777G>A (p.Ser259=)	LOC126863239, BCOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660316	NM_001123385.2(BCOR):c.1207G>T (p.Ala403Ser)	BCOR, LOC126863239 (A403S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660315	NM_001123385.2(BCOR):c.1563T>A (p.Asn521Lys)	BCOR, LOC126863239 (N521K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660314	NM_001123385.2(BCOR):c.2199G>A (p.Thr733=)	BCOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660313	NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys)	BCOR (R861C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660312	NM_001123385.2(BCOR):c.2609C>G (p.Thr870Ser)	BCOR (T870S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660311	NM_001123385.2(BCOR):c.2646T>C (p.Ser882=)	BCOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660310	NM_001123385.2(BCOR):c.2650C>G (p.Leu884Val)	BCOR (L884V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660309	NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn)	BCOR (T936N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660308	NM_001123385.2(BCOR):c.3664G>T (p.Val1222Leu)	BCOR (V1170L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660307	NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile)	BCOR (T1513I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660306	NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=)	BCOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660305	NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg)	BCOR (P1596R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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