ClinVar for MedGen (Select 816693) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3237371	NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)	NR2F1	Deletion (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
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 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 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 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 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 2441915	NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)	NR2F1, NR2F1-AS1 (C89Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 2434435	NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met)	NR2F1 (I191M +1 more)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2434434	NM_005654.6(NR2F1):c.5C>T (p.Ala2Val)	NR2F1, NR2F1-AS1 (A2V)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2434433	NM_005654.6(NR2F1):c.99C>A (p.Gly33=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2434432	NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)	NR2F1 (Q206* +1 more)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 1992335	NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)	NR2F1, NR2F1-AS1 (K148*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1806205	NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg)	NR2F1, NR2F1-AS1 (G17R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GUncertain significance
Select item 1806195	NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)	NR2F1, NR2F1-AS1 (C89G)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1806170	NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu)	NR2F1, NR2F1-AS1 (R115L)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 1804906	NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)	NR2F1, NR2F1-AS1 (C103R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1711198	NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter)	NR2F1 (Q153* +1 more)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1708261	NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs)	NR2F1 (Y360fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1699474	NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter)	NR2F1 (L276*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1685384	NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly)	NR2F1 (V394G)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1338805	NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu)	NR2F1, NR2F1-AS1 (K111E)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1321279	NM_005654.6(NR2F1):c.916G>A (p.Val306Met)	NR2F1 (V306M)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 1320275	NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu)	NR2F1 (P166L)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1320203	NM_005654.6(NR2F1):c.208_211del (p.Lys70fs)	NR2F1, NR2F1-AS1 (K70fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1320179	NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter)	NR2F1, NR2F1-AS1 (Q82*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1308649	NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)	NR2F1, NR2F1-AS1 (Y98H)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1300551	NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys)	NR2F1, NR2F1-AS1 (E104K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1209564	NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)	NR2F1 (E342K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1048566	NM_005654.6(NR2F1):c.1083del (p.Asn362fs)	NR2F1 (N362fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1048565	NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter)	NR2F1, NR2F1-AS1	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1048564	NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter)	NR2F1	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1048563	NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu)	NR2F1, NR2F1-AS1	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 988711	NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)	NR2F1, NR2F1-AS1 (M151K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 984969	NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)	NR2F1 (R366H)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 976672	NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu)	NR2F1, NR2F1-AS1 (F109L)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 976338	NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)	NR2F1 (T329fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 976204	NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr)	NR2F1, NR2F1-AS1 (C146Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GConflicting classifications of pathogenicity
Select item 931846	NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter)	NR2F1, NR2F1-AS1 (Q57*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 930895	NM_005654.6(NR2F1):c.120del (p.Gln40fs)	NR2F1, NR2F1-AS1 (Q40fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 930513	NM_005654.6(NR2F1):c.463+1G>A	NR2F1, NR2F1-AS1	Single nucleotide variant (splice donor variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 928681	NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)	NR2F1, NR2F1-AS1 (C86R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 827802	NM_005654.6(NR2F1):c.968_969del (p.Lys323fs)	NR2F1 (K323fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 827762	NM_005654.6(NR2F1):c.453G>C (p.Met151Ile)	NR2F1, NR2F1-AS1 (M151I)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 813799	NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)	NR2F1, NR2F1-AS1 (M151T)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 800977	NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)	NR2F1 (R373*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 666322	NM_005654.6(NR2F1):c.90_99del (p.Arg31fs)	NR2F1, NR2F1-AS1 (R31fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 666290	NM_005654.6(NR2F1):c.289C>T (p.His97Tyr)	NR2F1, NR2F1-AS1 (H97Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 624056	NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter)	NR2F1 (Y355*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 559635	NM_005654.6(NR2F1):c.289C>G (p.His97Asp)	NR2F1, NR2F1-AS1 (H97D)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 559633	NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys)	NR2F1, NR2F1-AS1 (R135C)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 545435	NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)	NR2F1 (Q244*)	Indel (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 520777	NM_005654.6(NR2F1):c.425G>A (p.Arg142His)	NR2F1, NR2F1-AS1 (R142H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 452994	NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser)	NR2F1, NR2F1-AS1 (G105S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438609	NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)	NR2F1 (L372P)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 438608	NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe)	NR2F1, NR2F1-AS1 (C86F)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 417902	NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr)	NR2F1 (M406T)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 375371	NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr)	NR2F1, NR2F1-AS1 (C138Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 279855	NM_005654.6(NR2F1):c.2T>C (p.Met1Thr)	NR2F1, NR2F1-AS1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 218937	Single allele	POU5F2, FAM172A +2 more	Deletion	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 218936	Single allele	KIAA0825, FAM172A +2 more	Deletion	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 216974	NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg)	NR2F1, NR2F1-AS1 (C128R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 126496	NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)	NR2F1-AS1, NR2F1 (R112K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 126495	NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	NR2F1 (L252P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 126494	NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)	NR2F1, NR2F1-AS1 (S113R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic/Likely pathogenic
Select item 126493	NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)	NR2F1, NR2F1-AS1 (R115P)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic/Likely pathogenic

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Items: 72