ClinVar for Gene (Select 8664) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275005	NM_003753.4(EIF3D):c.583T>C (p.Cys195Arg)	EIF3D (C195R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275004	NM_003753.4(EIF3D):c.665G>A (p.Arg222His)	EIF3D (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275003	NM_003753.4(EIF3D):c.265C>G (p.Gln89Glu)	EIF3D (Q89E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275002	NM_003753.4(EIF3D):c.1132G>A (p.Asp378Asn)	EIF3D (D378N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087952	NM_003753.4(EIF3D):c.262A>C (p.Thr88Pro)	EIF3D (T88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087951	NM_003753.4(EIF3D):c.1474C>T (p.Arg492Cys)	EIF3D (R492C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2921166	NM_003753.4(EIF3D):c.1077-1G>C	EIF3D	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2681255	NM_003753.4(EIF3D):c.48G>A (p.Trp16Ter)	EIF3D (W16*)	Single nucleotide variant (nonsense +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2617221	NM_003753.4(EIF3D):c.77G>A (p.Arg26Gln)	EIF3D (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600905	NM_003753.4(EIF3D):c.1484T>C (p.Ile495Thr)	EIF3D (I495T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2406384	NM_003753.4(EIF3D):c.1019C>G (p.Pro340Arg)	EIF3D (P340R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404567	NM_003753.4(EIF3D):c.446A>G (p.Lys149Arg)	EIF3D (K149R)	Single nucleotide variant (missense variant +1 more)	not specified	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 780651	NM_003753.4(EIF3D):c.711+7G>A	EIF3D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780650	NM_003753.4(EIF3D):c.712-10C>T	EIF3D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739587	NM_003753.4(EIF3D):c.699T>C (p.Pro233=)	EIF3D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714839	NM_003753.4(EIF3D):c.124-5C>T	EIF3D	Single nucleotide variant (intron variant)	not provided	GBenign
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)	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 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 149028	GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3	CACNG2, EIF3D +26 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 44