RBFOX2[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 2857566	NM_001349999.2(RBFOX2):c.1338C>G (p.Pro446=)	RBFOX2 (P363R +11 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797190	NM_001349999.2(RBFOX2):c.1300-5T>C	RBFOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2621955	NM_001349999.2(RBFOX2):c.1270C>T (p.Pro424Ser)	RBFOX2 (P358S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2976403	NM_001349999.2(RBFOX2):c.1262C>G (p.Ala421Gly)	RBFOX2 (A372G +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954691	NM_001349999.2(RBFOX2):c.1225G>T (p.Gly409Cys)	RBFOX2 (G338C +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2954692	NM_001349999.2(RBFOX2):c.1207G>T (p.Ala403Ser)	RBFOX2 (A332S +10 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2816779	NM_001349999.2(RBFOX2):c.1133T>C (p.Leu378Pro)	RBFOX2 (L329P +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 750495	NM_001349999.2(RBFOX2):c.1113C>T (p.Asp371=)	RBFOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1654819	NM_001349999.2(RBFOX2):c.1097+7G>A	RBFOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685059	NM_001349999.2(RBFOX2):c.1096G>A (p.Gly366Ser)	RBFOX2 (G290R +18 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538782	NM_001349999.2(RBFOX2):c.1093C>G (p.Pro365Ala)	RBFOX2 (P295A +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653095	NM_001349999.2(RBFOX2):c.1065G>A (p.Ala355=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322957	NM_001349999.2(RBFOX2):c.1054G>T (p.Ala352Ser)	RBFOX2 (A282S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289274	NM_001349999.2(RBFOX2):c.982C>T (p.Pro328Ser)	RBFOX2 (P283S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373382	NM_001349999.2(RBFOX2):c.919C>T (p.Pro307Ser)	RBFOX2 (P236S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108009	NM_001349999.2(RBFOX2):c.905_915del (p.Asn302fs)	RBFOX2 (N301fs +7 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1640226	NM_001349999.2(RBFOX2):c.894G>A (p.Val298=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2746173	NM_001349999.2(RBFOX2):c.872-5A>G	RBFOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 740212	NM_001349999.2(RBFOX2):c.872-10A>C	RBFOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2885025	NM_001349999.2(RBFOX2):c.858G>A (p.Pro286=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968447	NM_001349999.2(RBFOX2):c.817+15_817+43del	RBFOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1926058	NM_001349999.2(RBFOX2):c.817+19C>T	RBFOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645614	NM_001349999.2(RBFOX2):c.817+12T>C	RBFOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362058	NM_001349999.2(RBFOX2):c.788A>G (p.Asn263Ser)	RBFOX2 (N192S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2902878	NM_001349999.2(RBFOX2):c.732C>A (p.Thr244=)	RBFOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727647	NM_001349999.2(RBFOX2):c.726C>T (p.His242=)	RBFOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172912	NM_001349999.2(RBFOX2):c.685G>C (p.Glu229Gln)	RBFOX2 (E227Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536305	NM_001349999.2(RBFOX2):c.684C>T (p.Phe228=)	RBFOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2577600	NM_001349999.2(RBFOX2):c.662A>G (p.Lys221Arg)	RBFOX2 (K150R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192771	NM_001349999.2(RBFOX2):c.642C>A (p.Ile214=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013846	NM_001349999.2(RBFOX2):c.594C>T (p.Leu198=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577591	NM_001349999.2(RBFOX2):c.547C>G (p.Arg183Gly)	RBFOX2 (R112G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653096	NM_001349999.2(RBFOX2):c.543G>A (p.Pro181=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521760	NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs)	RBFOX2 (S126fs +5 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2545487	NM_001349999.2(RBFOX2):c.497A>G (p.Gln166Arg)	RBFOX2 (Q165R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339506	NM_001349999.2(RBFOX2):c.472G>T (p.Gly158Cys)	RBFOX2 (G157C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1626531	NM_001349999.2(RBFOX2):c.462+16_462+20del	RBFOX2	Deletion (intron variant)	not provided	GBenign
Select item 769481	NM_001349999.2(RBFOX2):c.447A>G (p.Gln149=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2714911	NM_001349999.2(RBFOX2):c.427A>G (p.Ser143Gly)	RBFOX2 (S143G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2418457	NM_001349999.2(RBFOX2):c.403A>G (p.Thr135Ala)	RBFOX2 (T135A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301452	NM_001349999.2(RBFOX2):c.397G>A (p.Gly133Arg)	RBFOX2 (G133R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712548	NM_001349999.2(RBFOX2):c.372C>T (p.Thr124=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699029	NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)	RBFOX2 (Q118* +2 more)	Single nucleotide variant (nonsense)	Hypoplastic left heart syndrome	GUncertain significance
Select item 746897	NM_001349999.2(RBFOX2):c.345A>G (p.Pro115=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2711819	NM_001349999.2(RBFOX2):c.340G>T (p.Val114Leu)	RBFOX2 (V66L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1374670	NM_001349999.2(RBFOX2):c.304C>T (p.Pro102Ser)	RBFOX2 (P54S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389751	NM_001349999.2(RBFOX2):c.294C>G (p.Ile98Met)	RBFOX2 (I50M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510194	NM_001349999.2(RBFOX2):c.271A>G (p.Met91Val)	RBFOX2 (M21V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934347	NM_001349999.2(RBFOX2):c.240T>A (p.Gly80=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 152135	GRCh38/hg38 22q12.3(chr22:35893428-35931051)x1	RBFOX2	Copy number loss	See cases	GUncertain significance
Select item 746898	NM_001349999.2(RBFOX2):c.204A>G (p.Pro68=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3018455	NM_001349999.2(RBFOX2):c.189C>T (p.Asn63=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793056	NM_001349999.2(RBFOX2):c.149C>G (p.Thr50Ser)	RBFOX2 (T50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712217	NM_001349999.2(RBFOX2):c.121G>C (p.Asp41His)	RBFOX2 (D41H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763485	NM_001349999.2(RBFOX2):c.99C>G (p.Pro33=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774747	NM_001349999.2(RBFOX2):c.96G>T (p.Val32=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045061	NM_001349999.2(RBFOX2):c.82C>T (p.Leu28=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1670791	NM_001349999.2(RBFOX2):c.54C>G (p.Ala18=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052876	NM_001349999.2(RBFOX2):c.29C>A (p.Pro10Gln)	RBFOX2 (P10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601736	NM_001349999.2(RBFOX2):c.24T>G (p.His8Gln)	RBFOX2 (H8Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2989652	NM_001349999.2(RBFOX2):c.1A>G (p.Met1Val)	RBFOX2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684937	GRCh37/hg19 22q12.3(chr22:36340692-36640557)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2423667	NC_000022.10:g.(?_36152132)_(36156099_?)del	RBFOX2	Deletion	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1340247	GRCh37/hg19 22q12.3(chr22:36296883-36631953)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340218	GRCh37/hg19 22q12.3(chr22:36319058-36403971)x1	RBFOX2	Copy number loss	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816223	GRCh37/hg19 22q12.3(chr22:36259882-36540046)x3	APOL3, RBFOX2	Copy number gain	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 689048	GRCh37/hg19 22q12.3(chr22:36202468-36292702)x1	RBFOX2	Copy number loss	not provided	GUncertain significance
Select item 688614	GRCh37/hg19 22q12.3(chr22:36390903-36480099)x3	RBFOX2	Copy number gain	not provided	GUncertain significance
Select item 687461	GRCh37/hg19 22q12.3(chr22:36395153-36480099)x3	RBFOX2	Copy number gain	not provided	GUncertain significance
Select item 686248	GRCh37/hg19 22q12.3(chr22:36395153-36480099)x3	RBFOX2	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 89