NR2F1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	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 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152045	GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1	ARB2A, LOC105379082 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 1703910	NM_005654.6(NR2F1):c.-1761A>G	NR2F1, NR2F1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1186466	NM_005654.6(NR2F1):c.-1751CT[11]	NR2F1-AS1, NR2F1	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1200196	NM_005654.6(NR2F1):c.-1588T>C	NR2F1, NR2F1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 676347	NM_005654.6(NR2F1):c.-187G>A	NR2F1, NR2F1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 380104	NM_005654.6(NR2F1):c.-33C>T	NR2F1, NR2F1-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1700379	NM_005654.6(NR2F1):c.1A>C (p.Met1Leu)	NR2F1, NR2F1-AS1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 424105	NM_005654.6(NR2F1):c.1A>G (p.Met1Val)	NR2F1, NR2F1-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 2194431	NM_005654.6(NR2F1):c.14T>C (p.Val5Ala)	NR2F1, NR2F1-AS1 (V5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2010655	NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn)	NR2F1, NR2F1-AS1 (S6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191570	NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn)	NR2F1, NR2F1-AS1 (S7N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 1380872	NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu)	NR2F1, NR2F1-AS1 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195960	NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg)	NR2F1, NR2F1-AS1 (Q12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709390	NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr)	NR2F1, NR2F1-AS1 (D14Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 681420	NM_005654.6(NR2F1):c.48C>T (p.Ala16=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2849209	NM_005654.6(NR2F1):c.53G>T (p.Gly18Val)	NR2F1, NR2F1-AS1 (G18V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1670320	NM_005654.6(NR2F1):c.57C>T (p.Asn19=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129461	NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser)	NR2F1, NR2F1-AS1 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2978628	NM_005654.6(NR2F1):c.60C>T (p.Pro20=)	NR2F1-AS1, NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 383591	NM_005654.6(NR2F1):c.60C>G (p.Pro20=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1556444	NM_005654.6(NR2F1):c.63C>A (p.Gly21=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212370	NM_005654.6(NR2F1):c.66C>T (p.Gly22=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453017	NM_005654.6(NR2F1):c.69C>T (p.Pro23=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2134627	NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser)	NR2F1, NR2F1-AS1 (N24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206936	NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys)	NR2F1, NR2F1-AS1 (N24K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1686772	NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala)	NR2F1, NR2F1-AS1 (P25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314078	NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg)	NR2F1, NR2F1-AS1 (P25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181359	NM_005654.6(NR2F1):c.75C>T (p.Pro25=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous 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 2196549	NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro)	NR2F1, NR2F1-AS1 (A27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119156	NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla)	NR2F1, NR2F1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1936856	NM_005654.6(NR2F1):c.81G>A (p.Ala27=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1933532	NM_005654.6(NR2F1):c.86C>T (p.Ala29Val)	NR2F1, NR2F1-AS1 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227203	NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)	NR2F1, NR2F1-AS1 (G32fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1993853	NM_005654.6(NR2F1):c.90C>A (p.Ala30=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2143966	NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)	NR2F1, NR2F1-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1438260	NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup)	NR2F1, NR2F1-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 546462	NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup)	NR2F1, NR2F1-AS1	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
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 2347320	NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del)	NR2F1, NR2F1-AS1 (G36del)	Microsatellite (inframe_deletion)	not provided +2 more	GLikely benign
Select item 1715789	NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln)	NR2F1, NR2F1-AS1 (R31Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1491712	NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del)	NR2F1, NR2F1-AS1	Microsatellite (inframe_deletion)	not provided	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 1475412	NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup)	NR2F1, NR2F1-AS1	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 1311857	NM_005654.6(NR2F1):c.101G>T (p.Gly34Val)	NR2F1, NR2F1-AS1 (G34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 506541	NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup)	NR2F1-AS1, NR2F1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2314304	NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly)	NR2F1, NR2F1-AS1 (A37G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1186575	NM_005654.6(NR2F1):c.111C>G (p.Ala37=)	NR2F1-AS1, NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087564	NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser)	NR2F1, NR2F1-AS1 (G38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921516	NM_005654.6(NR2F1):c.114C>A (p.Gly38=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368605	NM_005654.6(NR2F1):c.114C>T (p.Gly38=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1959901	NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp)	NR2F1, NR2F1-AS1 (E39D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2123487	NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter)	NR2F1, NR2F1-AS1 (Q41*)	Single nucleotide variant (nonsense)	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 1524118	NM_005654.6(NR2F1):c.131C>T (p.Ala44Val)	NR2F1, NR2F1-AS1 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897486	NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala)	NR2F1, NR2F1-AS1 (G45A)	Single nucleotide variant (missense variant)	not provided	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 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 2804666	NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del)	NR2F1, NR2F1-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1683871	NM_005654.6(NR2F1):c.150C>G (p.His50Gln)	NR2F1, NR2F1-AS1 (H50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385501	NM_005654.6(NR2F1):c.153G>A (p.Thr51=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 507591	NM_005654.6(NR2F1):c.162C>T (p.Thr54=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 381438	NM_005654.6(NR2F1):c.162C>A (p.Thr54=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1941243	NM_005654.6(NR2F1):c.165G>A (p.Pro55=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514488	NM_005654.6(NR2F1):c.165G>C (p.Pro55=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 546350	NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr)	NR2F1, NR2F1-AS1 (P58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1563179	NM_005654.6(NR2F1):c.174C>A (p.Pro58=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231757	NM_005654.6(NR2F1):c.179C>T (p.Ala60Val)	NR2F1, NR2F1-AS1 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373470	NM_005654.6(NR2F1):c.183C>T (p.Pro61=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2045533	NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr)	NR2F1, NR2F1-AS1 (A62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254274	NM_005654.6(NR2F1):c.189C>T (p.Thr63=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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