ClinVar for Gene (Select 51386) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087974	NM_016091.4(EIF3L):c.37G>T (p.Ala13Ser)	EIF3L (A13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087973	NM_016091.4(EIF3L):c.1690C>G (p.Pro564Ala)	EIF3L (P466A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615254	NM_016091.4(EIF3L):c.1162C>T (p.Leu388Phe)	EIF3L (L290F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548189	NM_016091.4(EIF3L):c.1606G>A (p.Ala536Thr)	EIF3L (A488T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538562	NM_016091.4(EIF3L):c.535C>T (p.Pro179Ser)	EIF3L (P179S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2402758	NM_016091.4(EIF3L):c.980G>T (p.Arg327Leu)	EIF3L (R229L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343378	NM_016091.4(EIF3L):c.371A>G (p.Asn124Ser)	EIF3L (N124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313797	NM_016091.4(EIF3L):c.1061C>T (p.Thr354Met)	EIF3L (T256M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301939	NM_016091.4(EIF3L):c.1058C>G (p.Thr353Ser)	EIF3L (T255S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206565	NM_016091.4(EIF3L):c.1460G>A (p.Arg487Gln)	EIF3L (R439Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526736	GRCh37/hg19 22q13.1(chr22:38116341-38369048)	ANKRD54, C22orf23 +9 more	Copy number loss	not specified	GLikely pathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
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 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	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 777707	NM_016091.4(EIF3L):c.966A>G (p.Ala322=)	EIF3L	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	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 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
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 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	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 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 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 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	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

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Links from Gene

Items: 37