EIF5A[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 2647325	NM_001370420.1(EIF5A):c.-52C>A	EIF5A (R13S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2344568	NM_001143760.1(EIF5A):c.37C>T (p.Arg13Cys)	EIF5A (R13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636832	NM_001143760.1(EIF5A):c.69+1G>A	EIF5A	Single nucleotide variant (splice donor variant +1 more)	Faundes-Banka syndrome +1 more	GUncertain significance
Select item 2691871	NM_001970.5(EIF5A):c.37G>A (p.Gly13Arg)	EIF5A (G13R +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GUncertain significance
Select item 1064810	NM_001970.5(EIF5A):c.77G>C (p.Arg26Pro)	EIF5A (R26P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1695672	NM_001970.5(EIF5A):c.124G>A (p.Glu42Lys)	EIF5A (E42K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164078	NM_001970.5(EIF5A):c.143C>A (p.Thr48Asn)	EIF5A (T48N +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GPathogenic
Select item 3088079	NM_001970.5(EIF5A):c.165+1G>A	EIF5A	Single nucleotide variant (splice donor variant)	not specified	GLikely pathogenic
Select item 1242483	NM_001970.5(EIF5A):c.166-10A>G	EIF5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2413190	NM_001970.5(EIF5A):c.191_192del (p.Phe64fs)	EIF5A (F64fs +1 more)	Deletion (frameshift variant)	Faundes-Banka syndrome	GLikely pathogenic
Select item 2580665	NM_001970.5(EIF5A):c.270+1G>A	EIF5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2632765	NM_001970.5(EIF5A):c.291dup (p.Tyr98fs)	EIF5A (Y128fs +1 more)	Duplication (frameshift variant)	EIF5A-related disorder	GUncertain significance
Select item 1164081	NM_001970.5(EIF5A):c.324dup (p.Arg109fs)	EIF5A (R109fs +1 more)	Duplication (frameshift variant)	Faundes-Banka syndrome	GPathogenic
Select item 1164080	NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter)	EIF5A (R109* +1 more)	Single nucleotide variant (nonsense)	Faundes-Banka syndrome	GPathogenic
Select item 1164079	NM_001970.5(EIF5A):c.325C>G (p.Arg109Gly)	EIF5A (R109G +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GPathogenic
Select item 1327680	NM_001970.5(EIF5A):c.343C>T (p.Pro115Ser)	EIF5A (P115S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3234785	NM_001970.5(EIF5A):c.344_345del (p.Pro115fs)	EIF5A (P115fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 513063	NM_001970.5(EIF5A):c.403-4C>T	EIF5A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2647326	NM_001970.5(EIF5A):c.408G>A (p.Thr136=)	EIF5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 560047	Single allele	ACAP1, EIF5A +4 more	Duplication	not provided	GUncertain significance
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442228	GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1	ACADVL, ACAP1 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 50