ClinVar for Gene (Select 7025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381237	NM_005654.6(NR2F1):c.565A>C (p.Ile189Leu)	NR2F1 (I189L +1 more)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 3379593	NM_005654.6(NR2F1):c.974T>C (p.Ile325Thr)	NR2F1 (I175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377109	NM_005654.6(NR2F1):c.311A>T (p.Glu104Val)	NR2F1, NR2F1-AS1 (E104V)	Single nucleotide variant (non-coding transcript variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 3377104	NM_005654.6(NR2F1):c.763dup (p.Thr255fs)	NR2F1 (T105fs +1 more)	Duplication (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3375751	NM_005654.6(NR2F1):c.2T>A (p.Met1Lys)	NR2F1, NR2F1-AS1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3373225	NM_005654.6(NR2F1):c.59C>T (p.Pro20Leu)	NR2F1, NR2F1-AS1 (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372415	NM_005654.6(NR2F1):c.1135A>T (p.Thr379Ser)	NR2F1 (T229S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369940	NM_005654.6(NR2F1):c.899G>A (p.Arg300His)	NR2F1 (R150H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369203	NM_005654.6(NR2F1):c.291C>T (p.His97=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3367983	NM_005654.6(NR2F1):c.177_194del (p.Ala60_Gly65del)	NR2F1, NR2F1-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3364857	NM_005654.6(NR2F1):c.530A>G (p.Asp177Gly)	NR2F1 (D177G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363980	NM_005654.6(NR2F1):c.1204C>G (p.Leu402Val)	NR2F1 (L252V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353136	NM_005654.6(NR2F1):c.514G>C (p.Ala172Pro)	NR2F1 (A172P +1 more)	Single nucleotide variant (missense variant)	NR2F1-related disorder	GUncertain significance
Select item 3340186	NM_005654.6(NR2F1):c.324T>C (p.Ser108=)	NR2F1, NR2F1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3337411	NM_005654.6(NR2F1):c.404G>T (p.Arg135Leu)	NR2F1, NR2F1-AS1 (R135L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3337410	NM_005654.6(NR2F1):c.310G>C (p.Glu104Gln)	NR2F1, NR2F1-AS1 (E104Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3300950	NM_005654.6(NR2F1):c.91C>A (p.Arg31Ser)	NR2F1, NR2F1-AS1 (R31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300949	NM_005654.6(NR2F1):c.748T>G (p.Ser250Ala)	NR2F1 (S250A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300948	NM_005654.6(NR2F1):c.137C>T (p.Ser46Leu)	NR2F1, NR2F1-AS1 (S46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254586	NM_005654.6(NR2F1):c.53del (p.Gly18fs)	NR2F1, NR2F1-AS1 (G18fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3254585	NM_005654.6(NR2F1):c.274A>T (p.Lys92Ter)	NR2F1, NR2F1-AS1 (K92*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3253139	NM_005654.6(NR2F1):c.1149del (p.Val384fs)	NR2F1 (V234fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3239450	NM_005654.6(NR2F1):c.102C>T (p.Gly34=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237371	NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)	NR2F1	Deletion (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3234689	NM_005654.6(NR2F1):c.1051G>A (p.Ala351Thr)	NR2F1 (A201T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234253	NM_005654.6(NR2F1):c.460G>A (p.Glu154Lys)	NR2F1, NR2F1-AS1 (E154K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3201928	NM_005654.6(NR2F1):c.404G>A (p.Arg135His)	NR2F1, NR2F1-AS1 (R135H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062838	GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1	ARB2A, KIAA0825 +3 more	Copy number loss	not specified	GPathogenic
Select item 3062820	GRCh37/hg19 5q15(chr5:92845157-93475376)x1	ARB2A, NR2F1 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 3049842	NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp)	NR2F1, NR2F1-AS1 (G95D)	Single nucleotide variant (missense variant)	NR2F1-related disorder	GLikely pathogenic
Select item 3024259	NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)	NR2F1 (R216C +1 more)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 3024254	NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)	NR2F1, NR2F1-AS1 (M151I)	Single nucleotide variant (non-coding transcript variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 3018674	NM_005654.6(NR2F1):c.393C>T (p.Asp131=)	NR2F1, NR2F1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3016536	NM_005654.6(NR2F1):c.840C>T (p.Ala280=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005985	NM_005654.6(NR2F1):c.282C>T (p.Ser94=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001129	NM_005654.6(NR2F1):c.246G>A (p.Gln82=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000551	NM_005654.6(NR2F1):c.384T>C (p.Cys128=)	NR2F1, NR2F1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994279	NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr)	NR2F1 (S118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984865	NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser)	NR2F1, NR2F1-AS1 (P74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981439	NM_005654.6(NR2F1):c.1262A>C (p.Gln421Pro)	NR2F1 (Q271P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2978628	NM_005654.6(NR2F1):c.60C>T (p.Pro20=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961249	NM_005654.6(NR2F1):c.991+17_991+38dup	NR2F1	Duplication (intron variant)	not provided	GLikely benign
Select item 2913114	NM_005654.6(NR2F1):c.464-20TC[2]	NR2F1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2911784	NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser)	NR2F1 (T105S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907315	NM_005654.6(NR2F1):c.991+9G>A	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905534	NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del)	NR2F1, NR2F1-AS1	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2899324	NM_005654.6(NR2F1):c.1065C>T (p.Tyr355=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894680	NM_005654.6(NR2F1):c.59C>A (p.Pro20His)	NR2F1, NR2F1-AS1 (P20H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893762	NM_005654.6(NR2F1):c.585C>G (p.Ala195=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886451	NM_005654.6(NR2F1):c.843C>T (p.Gly281=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873802	NM_005654.6(NR2F1):c.901A>G (p.Ile301Val)	NR2F1 (I301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870023	NM_005654.6(NR2F1):c.1111C>T (p.Leu371=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867430	NM_005654.6(NR2F1):c.303C>T (p.Phe101=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867271	NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly)	NR2F1, NR2F1-AS1 (D10G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2855261	NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser)	NR2F1, NR2F1-AS1 (A26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849209	NM_005654.6(NR2F1):c.53G>T (p.Gly18Val)	NR2F1, NR2F1-AS1 (G18V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2844506	NM_005654.6(NR2F1):c.348del (p.Asn117fs)	NR2F1, NR2F1-AS1 (N117fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2839618	NM_005654.6(NR2F1):c.123G>A (p.Gln41=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835055	NM_005654.6(NR2F1):c.975C>T (p.Ile325=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824164	NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp)	NR2F1, NR2F1-AS1 (S46W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813371	NM_005654.6(NR2F1):c.711C>G (p.Ile237Met)	NR2F1 (I237M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809727	NM_005654.6(NR2F1):c.1192C>G (p.Pro398Ala)	NR2F1 (P248A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804666	NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del)	NR2F1, NR2F1-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2799185	NM_005654.6(NR2F1):c.1086C>T (p.Asn362=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796985	NM_005654.6(NR2F1):c.1171G>A (p.Val391Ile)	NR2F1 (V241I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796457	NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro)	NR2F1, NR2F1-AS1 (A62P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790798	NM_005654.6(NR2F1):c.1212C>A (p.Arg404=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769574	NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp)	NR2F1 (E307D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752181	NM_005654.6(NR2F1):c.296G>T (p.Gly99Val)	NR2F1, NR2F1-AS1 (G99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748880	NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu)	NR2F1 (F239L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745210	NM_005654.6(NR2F1):c.973A>G (p.Ile325Val)	NR2F1 (I175V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743048	NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu)	NR2F1, NR2F1-AS1 (P64L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740434	NM_005654.6(NR2F1):c.894C>T (p.His298=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735897	NM_005654.6(NR2F1):c.240_255del (p.Gln81fs)	NR2F1, NR2F1-AS1 (Q81fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2724599	NM_005654.6(NR2F1):c.464-7_464-6del	NR2F1	Deletion (intron variant)	not provided	GLikely benign
Select item 2723089	NM_005654.6(NR2F1):c.1263G>A (p.Gln421=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720017	NM_005654.6(NR2F1):c.992-6G>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718684	NM_005654.6(NR2F1):c.1231A>G (p.Ser411Gly)	NR2F1 (S411G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710252	NM_005654.6(NR2F1):c.992-19C>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708617	NM_005654.6(NR2F1):c.1134C>T (p.Arg378=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708042	NM_005654.6(NR2F1):c.597del (p.Thr200fs)	NR2F1 (T200fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2700785	NM_005654.6(NR2F1):c.1205T>G (p.Leu402Arg)	NR2F1 (L252R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692412	NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)	NR2F1, NR2F1-AS1 (V114L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 2689601	NM_005654.6(NR2F1):c.173C>A (p.Pro58His)	NR2F1, NR2F1-AS1 (P58H)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2683748	NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)	NR2F1, NR2F1-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 2661925	NM_005654.6(NR2F1):c.1024G>C (p.Glu342Gln)	NR2F1 (E192Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636551	NM_005654.6(NR2F1):c.462_463+19del	NR2F1, NR2F1-AS1	Deletion (non-coding transcript variant +1 more)	NR2F1-related disorder	GUncertain significance
Select item 2635116	NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg)	NR2F1 (G187R +1 more)	Single nucleotide variant (missense variant)	NR2F1-related disorder	GUncertain significance
Select item 2626893	NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)	NR2F1 (L252fs +1 more)	Microsatellite (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 2613241	NM_005654.6(NR2F1):c.547del (p.Cys183fs)	NR2F1 (C33fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2575644	NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro)	NR2F1 (L222P +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2572794	NM_005654.6(NR2F1):c.807G>A (p.Met269Ile)	NR2F1 (M119I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572229	NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg)	NR2F1, NR2F1-AS1 (S94R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 2571226	NM_005654.6(NR2F1):c.1060G>A (p.Glu354Lys)	NR2F1 (E204K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500850	NM_005654.6(NR2F1):c.463+6T>C	NR2F1, NR2F1-AS1	Single nucleotide variant (intron variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2500376	NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg)	NR2F1, NR2F1-AS1 (Q132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446068	NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr)	NR2F1, NR2F1-AS1 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446036	NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly)	NR2F1, NR2F1-AS1 (R142G)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic

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