"GeneDx"[submitter] AND "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 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 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
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 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 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 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 681420	NM_005654.6(NR2F1):c.48C>T (p.Ala16=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 383591	NM_005654.6(NR2F1):c.60C>G (p.Pro20=)	NR2F1-AS1, NR2F1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 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 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 506541	NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup)	NR2F1, NR2F1-AS1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 specified +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 514488	NM_005654.6(NR2F1):c.165G>C (p.Pro55=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 373470	NM_005654.6(NR2F1):c.183C>T (p.Pro61=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 388391	NM_005654.6(NR2F1):c.192C>T (p.Pro64=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1706412	NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn)	NR2F1, NR2F1-AS1 (K70N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429402	NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser)	NR2F1, NR2F1-AS1 (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303527	NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp)	NR2F1, NR2F1-AS1 (G73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392978	NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser)	NR2F1, NR2F1-AS1 (G76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676755	NM_005654.6(NR2F1):c.237G>C (p.Gln79His)	NR2F1, NR2F1-AS1 (Q79H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 265667	NM_005654.6(NR2F1):c.262G>A (p.Val88Met)	NR2F1, NR2F1-AS1 (V88M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 599002	NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	NR2F1, NR2F1-AS1 (C89R)	Single nucleotide variant (missense variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 515013	NM_005654.6(NR2F1):c.276G>A (p.Lys92=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 451033	NM_005654.6(NR2F1):c.290A>C (p.His97Pro)	NR2F1, NR2F1-AS1 (H97P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 452436	NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp)	NR2F1, NR2F1-AS1 (G105D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430195	NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr)	NR2F1, NR2F1-AS1 (C106Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1098337	NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg)	NR2F1, NR2F1-AS1 (K107R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 432011	NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile)	NR2F1, NR2F1-AS1 (S108I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 620402	NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter)	NR2F1, NR2F1-AS1 (L118*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1194663	NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter)	NR2F1, NR2F1-AS1 (Y120*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2229340	NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr)	NR2F1, NR2F1-AS1 (C122Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 385748	NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser)	NR2F1, NR2F1-AS1 (C122S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 280458	NM_005654.6(NR2F1):c.417A>T (p.Gln139His)	NR2F1, NR2F1-AS1 (Q139H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 280552	NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys)	NR2F1, NR2F1-AS1 (R142C)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely 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 2430532	NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser)	NR2F1, NR2F1-AS1 (G150S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489295	NM_005654.6(NR2F1):c.459G>T (p.Arg153=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 382679	NM_005654.6(NR2F1):c.463+5A>G	NR2F1-AS1, NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223736	NM_005654.6(NR2F1):c.463+99C>G	NR2F1, NR2F1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231213	NM_005654.6(NR2F1):c.464-43C>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181859	NM_005654.6(NR2F1):c.464-11_464-8del	NR2F1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2430651	NM_005654.6(NR2F1):c.471G>T (p.Gln157His)	NR2F1 (Q157H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426684	NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser)	NR2F1 (G169S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 388773	NM_005654.6(NR2F1):c.531C>T (p.Asp177=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 509286	NM_005654.6(NR2F1):c.540C>T (p.Asn180=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310065	NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser)	NR2F1 (C183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514665	NM_005654.6(NR2F1):c.558C>T (p.Ser186=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1189871	NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr)	NR2F1 (S201T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 515829	NM_005654.6(NR2F1):c.666G>A (p.Leu222=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1803584	NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro)	NR2F1 (R225P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810696	NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg)	NR2F1 (L226R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804198	NM_005654.6(NR2F1):c.690C>T (p.Ala230=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 512494	NM_005654.6(NR2F1):c.708C>T (p.Asn236=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308582	NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln)	NR2F1 (L252Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1254371	NM_005654.6(NR2F1):c.756A>G (p.Leu252=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141442	NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)	NR2F1 (N113S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1215041	NM_005654.6(NR2F1):c.801C>T (p.Cys267=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1307701	NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu)	NR2F1 (S285L)	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 511648	NM_005654.6(NR2F1):c.903C>A (p.Ile301=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514396	NM_005654.6(NR2F1):c.939C>T (p.His313=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 740132	NM_005654.6(NR2F1):c.987G>A (p.Thr329=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512911	NM_005654.6(NR2F1):c.991+10C>A	NR2F1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 511851	NM_005654.6(NR2F1):c.991+12del	NR2F1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 518199	NM_005654.6(NR2F1):c.991+19G>A	NR2F1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 391559	NM_005654.6(NR2F1):c.992-16G>A	NR2F1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1167801	NM_005654.6(NR2F1):c.993C>T (p.Asp331=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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