Related gene-specific medical variations for Gene (Select 7025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3049842	NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp)	NR2F1, NR2F1-AS1 (G95D)	Single nucleotide variant (missense variant)	NR2F1-related condition	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 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 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 2978628	NM_005654.6(NR2F1):c.60C>T (p.Pro20=)	NR2F1-AS1, NR2F1	Single nucleotide variant (synonymous 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	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 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 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 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 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 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 2735897	NM_005654.6(NR2F1):c.240_255del (p.Gln81fs)	NR2F1, NR2F1-AS1 (Q81fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2636551	NM_005654.6(NR2F1):c.462_463+19del	NR2F1, NR2F1-AS1	Deletion (non-coding transcript variant +1 more)	NR2F1-related condition	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 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
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 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 2429893	NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)	NR2F1 (G245A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2347320	NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del)	NR2F1, NR2F1-AS1 (G36del)	Microsatellite (inframe_deletion)	NR2F1-related condition +2 more	GLikely benign
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 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 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 2227203	NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)	NR2F1, NR2F1-AS1 (G32fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 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 2193933	NM_005654.6(NR2F1):c.463+5A>C	NR2F1, NR2F1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2186784	NM_005654.6(NR2F1):c.463+7A>G	NR2F1, NR2F1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2143966	NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)	NR2F1, NR2F1-AS1	Microsatellite (inframe_insertion)	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 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 2123487	NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter)	NR2F1, NR2F1-AS1 (Q41*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2099910	NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro)	NR2F1, NR2F1-AS1 (Q137P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098546	NM_005654.6(NR2F1):c.463+13_463+15del	NR2F1, NR2F1-AS1	Microsatellite (intron 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 2048401	NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala)	NR2F1, NR2F1-AS1 (G78A)	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 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 1999860	NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs)	NR2F1, NR2F1-AS1 (G99fs)	Duplication (frameshift variant)	not provided	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 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 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 1941243	NM_005654.6(NR2F1):c.165G>A (p.Pro55=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1921516	NM_005654.6(NR2F1):c.114C>A (p.Gly38=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1716755	NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys)	NR2F1, NR2F1-AS1 (Y120C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1715574	NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala)	NR2F1, NR2F1-AS1 (T121A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711605	NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr)	NR2F1, NR2F1-AS1 (R112T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1706592	NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu)	NR2F1, NR2F1-AS1 (K107E)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
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 1703910	NM_005654.6(NR2F1):c.-1761A>G	NR2F1, NR2F1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1701480	NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs)	NR2F1, NR2F1-AS1 (K144fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1701063	NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)	NR2F1, NR2F1-AS1 (S93L)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
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 1700111	NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu)	NR2F1 (R235L)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 1700110	NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn)	NR2F1, NR2F1-AS1 (S108N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1695135	NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn)	NR2F1, NR2F1-AS1 (D131N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1670320	NM_005654.6(NR2F1):c.57C>T (p.Asn19=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653984	NM_005654.6(NR2F1):c.279G>T (p.Ser93=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615620	NM_005654.6(NR2F1):c.351C>T (p.Asn117=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603006	NM_005654.6(NR2F1):c.376A>C (p.Arg126=)	NR2F1-AS1, NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591412	NM_005654.6(NR2F1):c.231G>C (p.Ser77=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588106	NM_005654.6(NR2F1):c.204G>A (p.Gly68=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1562570	NM_005654.6(NR2F1):c.414C>T (p.Cys138=)	NR2F1, NR2F1-AS1	Single nucleotide variant (synonymous variant)	not provided	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 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 1491712	NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del)	NR2F1, NR2F1-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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