NR2F2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262787	NM_021005.4(NR2F2):c.-962C>T	NR2F2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248399	NM_021005.4(NR2F2):c.-65C>T	NR2F2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 958490	NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser)	NR2F2 (A2S)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1016890	NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala)	NR2F2 (T7A)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2570648	NM_021005.4(NR2F2):c.23G>A (p.Trp8Ter)	NR2F2 (W8*)	Single nucleotide variant (nonsense +1 more)	NR2F2 associated disorders	GLikely pathogenic
Select item 1127824	NM_021005.4(NR2F2):c.36G>A (p.Gln12=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3051780	NM_021005.4(NR2F2):c.48C>T (p.Pro16=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	NR2F2-related disorder	GLikely benign
Select item 521441	NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter)	NR2F2 (Q22*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2259072	NM_021005.4(NR2F2):c.76G>C (p.Ala26Pro)	NR2F2 (A26P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 547880	NM_021005.4(NR2F2):c.83_84dup (p.Val29fs)	NR2F2 (V29fs)	Duplication (frameshift variant +1 more)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 916034	NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)	NR2F2 (P33fs)	Deletion (frameshift variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GPathogenic
Select item 2042346	NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)	NR2F2 (P32R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GUncertain significance
Select item 916038	NM_021005.4(NR2F2):c.103_109del (p.Gly35fs)	NR2F2 (G35fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2541489	NM_021005.4(NR2F2):c.100C>T (p.Pro34Ser)	NR2F2 (P34S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 241369	NM_021005.4(NR2F2):c.129C>G (p.Pro43=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2475201	NM_021005.4(NR2F2):c.146C>A (p.Ala49Asp)	NR2F2 (A49D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2916730	NM_021005.4(NR2F2):c.150C>T (p.Ser50=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2257274	NM_021005.4(NR2F2):c.162G>C (p.Gln54His)	NR2F2 (Q54H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 989358	NM_021005.4(NR2F2):c.172G>C (p.Gly58Arg)	NR2F2 (G58R)	Single nucleotide variant (missense variant +1 more)	NR2F2-related congenital heart defects	GUncertain significance
Select item 2634144	NM_021005.4(NR2F2):c.197C>T (p.Pro66Leu)	NR2F2 (P66L)	Single nucleotide variant (missense variant +1 more)	NR2F2-related disorder	GUncertain significance
Select item 2569423	NM_021005.4(NR2F2):c.202A>G (p.Ser68Gly)	NR2F2 (S68G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2113678	NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)	NR2F2 (S68N)	Single nucleotide variant (intron variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 640947	NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg)	NR2F2 (S68R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 128234	NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	NR2F2	Microsatellite (inframe_insertion +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1669155	NM_021005.4(NR2F2):c.210G>A (p.Lys70=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 848589	NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)	NR2F2 (Q73*)	Single nucleotide variant (nonsense +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2038653	NM_021005.4(NR2F2):c.237C>T (p.Cys79=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 446122	NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)	NR2F2 (G83*)	Single nucleotide variant (nonsense +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1557058	NM_021005.4(NR2F2):c.264C>G (p.Gly88=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1064859	NM_021005.4(NR2F2):c.269A>G (p.His90Arg)	NR2F2 (H90R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GUncertain significance
Select item 1723583	NM_021005.4(NR2F2):c.274G>C (p.Gly92Arg)	NR2F2 (G92R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570646	NM_021005.4(NR2F2):c.275G>T (p.Gly92Val)	NR2F2 (G92V)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 854852	NM_021005.4(NR2F2):c.276C>T (p.Gly92=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2570643	NM_021005.4(NR2F2):c.287G>A (p.Cys96Tyr)	NR2F2 (C96Y)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2662617	NM_021005.4(NR2F2):c.301A>G (p.Ser101Gly)	NR2F2 (S101G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014312	NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu)	NR2F2 (F103L)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2570644	NM_021005.4(NR2F2):c.313C>A (p.Arg105Ser)	NR2F2 (R105S)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 3201929	NM_021005.4(NR2F2):c.334A>G (p.Ser112Gly)	NR2F2 (S112G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1159403	NM_021005.4(NR2F2):c.357G>C (p.Arg119=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2505835	NM_021005.4(NR2F2):c.362G>A (p.Cys121Tyr)	NR2F2 (C121Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570645	NM_021005.4(NR2F2):c.382C>T (p.Arg128Cys)	NR2F2 (R128C)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 1097672	NM_021005.4(NR2F2):c.414G>A (p.Lys138=)	NR2F2	Single nucleotide variant (intron variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1805184	NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)	NR2F2 (L140F)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1710861	NM_021005.4(NR2F2):c.442+1G>T	NR2F2	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1597154	NM_021005.4(NR2F2):c.443-5C>T	NR2F2	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3006856	NM_021005.4(NR2F2):c.456C>T (p.Gly152=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1606266	NM_021005.4(NR2F2):c.468G>T (p.Pro156=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3055368	NM_021005.4(NR2F2):c.489G>A (p.Gln163=)	NR2F2	Single nucleotide variant (synonymous variant)	NR2F2-related disorder	GLikely benign
Select item 1338920	NM_021005.4(NR2F2):c.527C>T (p.Ser176Leu)	NR2F2 (S176L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 477848	NM_021005.4(NR2F2):c.537C>T (p.Ser179=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4 +1 more	GBenign/Likely benign
Select item 1520649	NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg)	NR2F2 (G27R +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1805610	NM_021005.4(NR2F2):c.558dup (p.Arg187fs)	NR2F2 (R187fs +2 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 3062062	NM_021005.4(NR2F2):c.576del (p.Thr193fs)	NR2F2 (T193fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1452069	NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)	NR2F2 (Q69* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 128233	NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)	NR2F2 (N205I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2733995	NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)	NR2F2 (I206L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2662479	NM_021005.4(NR2F2):c.621G>A (p.Met207Ile)	NR2F2 (M207I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165588	NM_021005.4(NR2F2):c.648C>A (p.Ala216=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3201930	NM_021005.4(NR2F2):c.657G>T (p.Met219Ile)	NR2F2 (M66I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966751	NM_021005.4(NR2F2):c.671T>A (p.Val224Asp)	NR2F2 (V91D +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1038040	NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp)	NR2F2 (R75W +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 3062322	NM_021005.4(NR2F2):c.684del (p.Asn229fs)	NR2F2 (N229fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 2040295	NM_021005.4(NR2F2):c.687C>T (p.Asn229=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1321294	NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr)	NR2F2 (P231T +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1311948	NM_021005.4(NR2F2):c.692C>T (p.Pro231Leu)	NR2F2 (P231L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241370	NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter)	NR2F2 (Q104* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2683753	NM_021005.4(NR2F2):c.737G>A (p.Arg246His)	NR2F2 (R113H +2 more)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GLikely pathogenic
Select item 598763	NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter)	NR2F2 (W249* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2276040	NM_021005.4(NR2F2):c.775C>T (p.Gln259Ter)	NR2F2 (Q106* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2662096	NM_021005.4(NR2F2):c.788C>G (p.Pro263Arg)	NR2F2 (P110R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143621	NM_021005.4(NR2F2):c.789C>T (p.Pro263=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 697865	NM_021005.4(NR2F2):c.816C>G (p.Ala272=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2854038	NM_021005.4(NR2F2):c.819C>T (p.Ala273=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 413760	NM_021005.4(NR2F2):c.834G>A (p.Ser278=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4 +1 more	GBenign
Select item 2430791	NM_021005.4(NR2F2):c.839T>A (p.Met280Lys)	NR2F2 (M127K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1088872	NM_021005.4(NR2F2):c.843C>T (p.Ser281=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 280543	NM_021005.4(NR2F2):c.856dup (p.Val286fs)	NR2F2 (V133fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3018453	NM_021005.4(NR2F2):c.879G>A (p.Arg293=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 743789	NM_021005.4(NR2F2):c.882C>T (p.Ile294=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1094657	NM_021005.4(NR2F2):c.918C>T (p.His306=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3235745	NM_021005.4(NR2F2):c.931G>C (p.Glu311Gln)	NR2F2 (E158Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443196	NM_021005.4(NR2F2):c.931G>A (p.Glu311Lys)	NR2F2 (E158K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2570642	NM_021005.4(NR2F2):c.933G>C (p.Glu311Asp)	NR2F2 (E178D +2 more)	Single nucleotide variant (missense variant)	NR2F2 associated disorders	GUncertain significance
Select item 522168	NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg)	NR2F2 (C181R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 854815	NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn)	NR2F2 (K163N +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2645730	NM_021005.4(NR2F2):c.955G>A (p.Val319Ile)	NR2F2 (V166I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794216	NM_021005.4(NR2F2):c.958C>T (p.Leu320=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 128235	NM_021005.4(NR2F2):c.970+1G>A	NR2F2	Single nucleotide variant (splice donor variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1584202	NM_021005.4(NR2F2):c.970+12_970+16dup	NR2F2	Duplication (intron variant)	Congenital heart defects, multiple types, 4	GBenign
Select item 1532090	NM_021005.4(NR2F2):c.970+18C>A	NR2F2	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 4	GBenign
Select item 1229872	NM_021005.4(NR2F2):c.970+267C>T	NR2F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220987	NM_021005.4(NR2F2):c.971-66TTC[9]	NR2F2	Microsatellite (intron variant)	not provided	GBenign
Select item 1261370	NM_021005.4(NR2F2):c.971-66TTC[7]	NR2F2	Microsatellite (intron variant)	not provided	GBenign
Select item 1547906	NM_021005.4(NR2F2):c.971-11C>T	NR2F2	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 951285	NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu)	NR2F2 (V181L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 733515	NM_021005.4(NR2F2):c.1008C>T (p.Ser336=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2429770	NM_021005.4(NR2F2):c.1019del (p.Lys340fs)	NR2F2 (K187fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 128232	NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr)	NR2F2 (S341Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 817184	NM_021005.4(NR2F2):c.1029_1035del (p.Cys343fs)	NR2F2 (C210fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1012381	NM_021005.4(NR2F2):c.1081G>C (p.Gly361Arg)	NR2F2 (G208R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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