FOXRED2[gene] - ClinVar

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Items: 64

	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 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	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 149028	GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3	CACNG2, EIF3D +26 more	Copy number gain	See cases	GUncertain significance
Select item 2457118	NM_001102371.2(FOXRED2):c.2050C>T (p.Leu684Phe)	FOXRED2 (L684F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465053	NM_001102371.2(FOXRED2):c.1975G>C (p.Gly659Arg)	FOXRED2 (G569R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219520	NM_001102371.2(FOXRED2):c.1949G>A (p.Arg650His)	FOXRED2 (R560H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469843	NM_001102371.2(FOXRED2):c.1925G>A (p.Arg642Gln)	FOXRED2 (R642Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483641	NM_001102371.2(FOXRED2):c.1924C>T (p.Arg642Trp)	FOXRED2 (R642W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351114	NM_001102371.2(FOXRED2):c.1865T>A (p.Met622Lys)	FOXRED2 (M532K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350403	NM_001102371.2(FOXRED2):c.1823G>A (p.Arg608His)	FOXRED2 (R518H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465475	NM_001102371.2(FOXRED2):c.1796A>C (p.Glu599Ala)	FOXRED2 (E509A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536327	NM_001102371.2(FOXRED2):c.1778T>C (p.Leu593Ser)	FOXRED2 (L593S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264491	NM_001102371.2(FOXRED2):c.1666C>T (p.Arg556Trp)	FOXRED2 (R466W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402073	NM_001102371.2(FOXRED2):c.1543C>T (p.Arg515Trp)	FOXRED2 (R425W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469512	NM_001102371.2(FOXRED2):c.1517C>T (p.Pro506Leu)	FOXRED2 (P506L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460463	NM_001102371.2(FOXRED2):c.1471G>A (p.Gly491Arg)	FOXRED2 (G401R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491612	NM_001102371.2(FOXRED2):c.1373T>C (p.Leu458Pro)	FOXRED2 (L458P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397386	NM_001102371.2(FOXRED2):c.1316G>A (p.Arg439His)	FOXRED2 (R439H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322392	NM_001102371.2(FOXRED2):c.1270G>A (p.Ala424Thr)	FOXRED2 (A334T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522844	NM_001102371.2(FOXRED2):c.1217T>C (p.Val406Ala)	FOXRED2 (V316A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653106	NM_001102371.2(FOXRED2):c.1200C>T (p.His400=)	FOXRED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469122	NM_001102371.2(FOXRED2):c.1175G>A (p.Arg392Gln)	FOXRED2 (R392Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326129	NM_001102371.2(FOXRED2):c.1169A>G (p.Asp390Gly)	FOXRED2 (D300G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213367	NM_001102371.2(FOXRED2):c.1130G>A (p.Arg377Gln)	FOXRED2 (R287Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317545	NM_001102371.2(FOXRED2):c.1106C>T (p.Ala369Val)	FOXRED2 (A279V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456388	NM_001102371.2(FOXRED2):c.1103G>C (p.Arg368Pro)	FOXRED2 (R278P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613299	NM_001102371.2(FOXRED2):c.1034T>G (p.Phe345Cys)	FOXRED2 (F345C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412486	NM_001102371.2(FOXRED2):c.1000C>T (p.Arg334Trp)	FOXRED2 (R334W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324735	NM_001102371.2(FOXRED2):c.998A>T (p.Asp333Val)	FOXRED2 (D333V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293917	NM_001102371.2(FOXRED2):c.968A>G (p.Asn323Ser)	FOXRED2 (N323S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359613	NM_001102371.2(FOXRED2):c.964G>A (p.Asp322Asn)	FOXRED2 (D322N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384851	NM_001102371.2(FOXRED2):c.958C>G (p.Gln320Glu)	FOXRED2 (Q320E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2567047	NM_001102371.2(FOXRED2):c.791A>G (p.Asn264Ser)	FOXRED2 (N264S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338589	NM_001102371.2(FOXRED2):c.522G>C (p.Gln174His)	FOXRED2 (Q174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518315	NM_001102371.2(FOXRED2):c.439G>A (p.Ala147Thr)	FOXRED2 (A147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340907	NM_001102371.2(FOXRED2):c.353A>G (p.Tyr118Cys)	FOXRED2 (Y118C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287609	NM_001102371.2(FOXRED2):c.232C>T (p.Leu78Phe)	FOXRED2 (L78F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324373	NM_001102371.2(FOXRED2):c.178G>A (p.Glu60Lys)	FOXRED2 (E60K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545378	NM_001102371.2(FOXRED2):c.38C>T (p.Pro13Leu)	FOXRED2 (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1808185	GRCh37/hg19 22q12.3(chr22:36751242-36971521)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807621	GRCh37/hg19 22q12.3(chr22:36693899-36963432)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1339884	GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	Gnot provided
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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 689129	GRCh37/hg19 22q12.3(chr22:36704833-36911784)x3	EIF3D, FOXRED2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688821	GRCh37/hg19 22q12.3(chr22:36831984-37009111)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 687399	GRCh37/hg19 22q12.3(chr22:36831022-37009180)x4	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 686689	GRCh37/hg19 22q12.3(chr22:36704833-36968932)x3	CACNG2, EIF3D +3 more	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 685333	GRCh37/hg19 22q12.3(chr22:36746223-36971882)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 560096	Single allele	TXN2, CACNG2 +2 more	Duplication	not provided	GUncertain significance
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 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	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: 64