EIF3J[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 2486924	NM_003758.4(EIF3J):c.67G>A (p.Asp23Asn)	EIF3J, LOC130056969 (D23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275014	NM_003758.4(EIF3J):c.352C>A (p.Leu118Met)	EIF3J (L118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620048	NM_003758.4(EIF3J):c.356G>A (p.Arg119Gln)	EIF3J (R70Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455500	NM_003758.4(EIF3J):c.362A>G (p.Lys121Arg)	EIF3J (K72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087965	NM_003758.4(EIF3J):c.534T>A (p.Ser178Arg)	EIF3J (S129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 316067	NM_025137.4(SPG11):c.394_398dup	EIF3J, SPG11	Duplication (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 885492	NM_025137.4(SPG11):c.*388A>C	EIF3J, SPG11	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 316068	NM_025137.4(SPG11):c.368_371dup	EIF3J, SPG11	Duplication (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 316069	NM_025137.4(SPG11):c.*320C>T	EIF3J, SPG11	Single nucleotide variant (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063371	GRCh37/hg19 15q15.3-21.1(chr15:44663847-44917029)x3	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526449	GRCh37/hg19 15q15.3-21.1(chr15:44346958-44853978)	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 221499	GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3	CTDSPL2, EIF3J	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 26