ClinVar for Gene (Select 23543) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313135	NM_001349999.2(RBFOX2):c.1208C>T (p.Ala403Val)	RBFOX2 (A336V +22 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3313134	NM_001349999.2(RBFOX2):c.1212C>T (p.Ala404=)	RBFOX2 (P321L +11 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3313133	NM_001349999.2(RBFOX2):c.311C>T (p.Pro104Leu)	RBFOX2 (P104L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152114	NM_001349999.2(RBFOX2):c.328A>G (p.Thr110Ala)	RBFOX2 (T110A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152112	NM_001349999.2(RBFOX2):c.1275C>T (p.Ala425=)	RBFOX2 (P336L +11 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3152111	NM_001349999.2(RBFOX2):c.1224C>A (p.Asp408Glu)	RBFOX2 (D337E +22 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3018455	NM_001349999.2(RBFOX2):c.189C>T (p.Asn63=)	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 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 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 2968447	NM_001349999.2(RBFOX2):c.817+15_817+43del	RBFOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2954692	NM_001349999.2(RBFOX2):c.1207G>T (p.Ala403Ser)	RBFOX2 (A332S +10 more)	Single nucleotide variant (missense variant +1 more)	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 2902878	NM_001349999.2(RBFOX2):c.732C>A (p.Thr244=)	RBFOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885025	NM_001349999.2(RBFOX2):c.858G>A (p.Pro286=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2793056	NM_001349999.2(RBFOX2):c.149C>G (p.Thr50Ser)	RBFOX2 (T50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746173	NM_001349999.2(RBFOX2):c.872-5A>G	RBFOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2712548	NM_001349999.2(RBFOX2):c.372C>T (p.Thr124=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2711819	NM_001349999.2(RBFOX2):c.340G>T (p.Val114Leu)	RBFOX2 (V66L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684937	GRCh37/hg19 22q12.3(chr22:36340692-36640557)x3	APOL2, APOL3 +2 more	Copy number gain	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 2653095	NM_001349999.2(RBFOX2):c.1065G>A (p.Ala355=)	RBFOX2	Single nucleotide variant (synonymous 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 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 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 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 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 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 2423667	NC_000022.10:g.(?_36152132)_(36156099_?)del	RBFOX2	Deletion	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
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 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 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 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 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 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 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 2192771	NM_001349999.2(RBFOX2):c.642C>A (p.Ile214=)	RBFOX2	Single nucleotide variant (synonymous variant)	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)	Inborn genetic diseases +1 more	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 2052876	NM_001349999.2(RBFOX2):c.29C>A (p.Pro10Gln)	RBFOX2 (P10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045061	NM_001349999.2(RBFOX2):c.82C>T (p.Leu28=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1934347	NM_001349999.2(RBFOX2):c.240T>A (p.Gly80=)	RBFOX2	Single nucleotide variant (synonymous 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 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 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 1670791	NM_001349999.2(RBFOX2):c.54C>G (p.Ala18=)	RBFOX2	Single nucleotide variant (synonymous variant)	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 1645614	NM_001349999.2(RBFOX2):c.817+12T>C	RBFOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640226	NM_001349999.2(RBFOX2):c.894G>A (p.Val298=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1626531	NM_001349999.2(RBFOX2):c.462+16_462+20del	RBFOX2	Deletion (intron variant)	not provided	GBenign
Select item 1601736	NM_001349999.2(RBFOX2):c.24T>G (p.His8Gln)	RBFOX2 (H8Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 797190	NM_001349999.2(RBFOX2):c.1300-5T>C	RBFOX2	Single nucleotide variant (intron 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 769481	NM_001349999.2(RBFOX2):c.447A>G (p.Gln149=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 763485	NM_001349999.2(RBFOX2):c.99C>G (p.Pro33=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 746898	NM_001349999.2(RBFOX2):c.204A>G (p.Pro68=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746897	NM_001349999.2(RBFOX2):c.345A>G (p.Pro115=)	RBFOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740212	NM_001349999.2(RBFOX2):c.872-10A>C	RBFOX2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 521760	NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs)	RBFOX2 (S126fs +5 more)	Duplication (frameshift variant)	Inborn genetic diseases	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)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
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 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
Select item 152135	GRCh38/hg38 22q12.3(chr22:35893428-35931051)x1	RBFOX2	Copy number loss	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 95