TEF[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3175713	NM_003216.4(TEF):c.28C>T (p.Pro10Ser)	LOC121627945, TEF (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520901	NM_003216.4(TEF):c.37G>A (p.Asp13Asn)	LOC121627945, TEF (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454673	NM_003216.4(TEF):c.64C>T (p.Pro22Ser)	LOC121627945, TEF (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558714	NM_003216.4(TEF):c.64C>A (p.Pro22Thr)	LOC121627945, TEF (P22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535453	NM_003216.4(TEF):c.77C>T (p.Ala26Val)	LOC121627945, TEF (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395880	NM_003216.4(TEF):c.79G>A (p.Gly27Arg)	LOC121627945, TEF (G27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530022	NM_003216.4(TEF):c.85A>G (p.Arg29Gly)	LOC121627945, TEF (R29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454672	NM_003216.4(TEF):c.89G>A (p.Gly30Asp)	LOC121627945, TEF (G30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401596	NM_003216.4(TEF):c.95C>T (p.Ser32Leu)	LOC121627945, TEF (S32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175712	NM_003216.4(TEF):c.101C>G (p.Ser34Cys)	LOC121627945, TEF (S34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454676	NM_003216.4(TEF):c.131A>C (p.Glu44Ala)	LOC121627945, TEF (E44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3454677	NM_003216.4(TEF):c.133A>T (p.Asn45Tyr)	LOC121627945, TEF (N45Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461780	NM_003216.4(TEF):c.151C>G (p.Arg51Gly)	LOC121627945, TEF (R51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363145	NM_003216.4(TEF):c.285C>G (p.His95Gln)	TEF (H65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3454675	NM_003216.4(TEF):c.416C>A (p.Ala139Glu)	TEF (A109E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589617	NM_003216.4(TEF):c.463G>A (p.Val155Met)	TEF (V125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3454674	NM_003216.4(TEF):c.494A>T (p.Glu165Val)	TEF (E135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519144	NM_003216.4(TEF):c.896A>C (p.Lys299Thr)	TEF (K269T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325245	NM_003216.4(TEF):c.901G>A (p.Gly301Arg)	TEF (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	MCHR1, MGAT3 +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062461	GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1	CHADL, EP300 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	PHETA2, PHF5A +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1339853	GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3	ACO2, PHF5A +4 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 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	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 687506	GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3	ACO2, PHF5A +4 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 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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 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

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Items: 46