EIF5B[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 2328939	NM_015904.4(EIF5B):c.24G>C (p.Lys8Asn)	EIF5B (K8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302134	NM_015904.4(EIF5B):c.61G>A (p.Ala21Thr)	EIF5B (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789703	NM_015904.4(EIF5B):c.246+10A>T	EIF5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276314	NM_015904.4(EIF5B):c.329A>G (p.Asp110Gly)	EIF5B (D110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621215	NM_015904.4(EIF5B):c.331A>G (p.Asn111Asp)	EIF5B (N111D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400501	NM_015904.4(EIF5B):c.376A>G (p.Thr126Ala)	EIF5B (T126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532141	NM_015904.4(EIF5B):c.416A>G (p.Asp139Gly)	EIF5B (D139G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262552	NM_015904.4(EIF5B):c.443A>T (p.Lys148Ile)	EIF5B (K148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264049	NM_015904.4(EIF5B):c.448G>T (p.Ala150Ser)	EIF5B (A150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371985	NM_015904.4(EIF5B):c.472A>G (p.Asn158Asp)	EIF5B (N158D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596421	NM_015904.4(EIF5B):c.664T>G (p.Ser222Ala)	EIF5B (S222A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782085	NM_015904.4(EIF5B):c.710A>T (p.Glu237Val)	EIF5B (E237V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2307629	NM_015904.4(EIF5B):c.731A>T (p.Asp244Val)	EIF5B (D244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272361	NM_015904.4(EIF5B):c.758T>C (p.Leu253Pro)	EIF5B (L253P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252108	NM_015904.4(EIF5B):c.782C>T (p.Thr261Ile)	EIF5B (T261I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353337	NM_015904.4(EIF5B):c.857C>A (p.Thr286Asn)	EIF5B (T286N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378644	NM_015904.4(EIF5B):c.866C>G (p.Thr289Ser)	EIF5B (T289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347129	NM_015904.4(EIF5B):c.1135G>A (p.Glu379Lys)	EIF5B (E379K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708464	NM_015904.4(EIF5B):c.1266T>C (p.Thr422=)	EIF5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528839	NM_015904.4(EIF5B):c.1274T>C (p.Leu425Pro)	EIF5B (L425P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493004	NM_015904.4(EIF5B):c.1282G>C (p.Ala428Pro)	EIF5B (A428P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294966	NM_015904.4(EIF5B):c.1418T>C (p.Val473Ala)	EIF5B (V473A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606141	NM_015904.4(EIF5B):c.1445A>C (p.Glu482Ala)	EIF5B (E482A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240086	NM_015904.4(EIF5B):c.1492A>C (p.Thr498Pro)	EIF5B (T498P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260226	NM_015904.4(EIF5B):c.1602G>T (p.Glu534Asp)	EIF5B (E534D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719415	NM_015904.4(EIF5B):c.1762A>G (p.Ser588Gly)	EIF5B (S588G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549775	NM_015904.4(EIF5B):c.1765T>C (p.Ser589Pro)	EIF5B (S589P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529451	NM_015904.4(EIF5B):c.1831C>T (p.Arg611Trp)	EIF5B (R611W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232305	NM_015904.4(EIF5B):c.1897A>G (p.Ile633Val)	EIF5B (I633V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2399251	NM_015904.4(EIF5B):c.2015A>G (p.Asn672Ser)	EIF5B (N672S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307062	NM_015904.4(EIF5B):c.2221A>G (p.Ile741Val)	EIF5B (I741V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490137	NM_015904.4(EIF5B):c.2309C>G (p.Ser770Cys)	EIF5B (S770C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252107	NM_015904.4(EIF5B):c.2426A>T (p.Tyr809Phe)	EIF5B (Y809F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340608	NM_015904.4(EIF5B):c.2600C>T (p.Pro867Leu)	EIF5B (P867L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456469	NM_015904.4(EIF5B):c.2605A>C (p.Met869Leu)	EIF5B (M869L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562369	NM_015904.4(EIF5B):c.3164G>A (p.Arg1055Lys)	EIF5B (R1055K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473930	NM_015904.4(EIF5B):c.3223G>A (p.Asp1075Asn)	EIF5B (D1075N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 976395	NM_015904.4(EIF5B):c.3607C>T (p.Gln1203Ter)	EIF5B (Q1203*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809205	GRCh37/hg19 2q11.2(chr2:99865439-100005128)x1	EIF5B, LYG1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814286	GRCh37/hg19 2q11.2(chr2:99870148-100416209)x3	AFF3, LYG1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562510	GRCh37/hg19 2q11.2(chr2:100002289-100097976)x1	EIF5B, REV1	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	ACTR1B, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 61