ClinVar for Gene (Select 1975) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087991	NM_001417.7(EIF4B):c.94A>G (p.Thr32Ala)	EIF4B (T32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087990	NM_001417.7(EIF4B):c.740G>A (p.Arg247Gln)	EIF4B (R208Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087989	NM_001417.7(EIF4B):c.637C>A (p.Pro213Thr)	EIF4B (P174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087988	NM_001417.7(EIF4B):c.604C>T (p.Arg202Cys)	EIF4B (R163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087987	NM_001417.7(EIF4B):c.256G>A (p.Asp86Asn)	EIF4B (D86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087986	NM_001417.7(EIF4B):c.202A>G (p.Ile68Val)	EIF4B (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087985	NM_001417.7(EIF4B):c.1258A>G (p.Thr420Ala)	EIF4B (T420A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087984	NM_001417.7(EIF4B):c.1253C>G (p.Ser418Trp)	EIF4B (S418W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087983	NM_001417.7(EIF4B):c.1078A>G (p.Ile360Val)	EIF4B (I360V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595049	NM_001417.7(EIF4B):c.1385C>T (p.Ser462Phe)	EIF4B (S423F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540358	NM_001417.7(EIF4B):c.1649G>A (p.Gly550Glu)	EIF4B (G550E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524935	NM_001417.7(EIF4B):c.1792G>C (p.Val598Leu)	EIF4B (V598L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523367	NM_001417.7(EIF4B):c.1816G>A (p.Gly606Arg)	EIF4B (G606R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511489	NM_001417.7(EIF4B):c.1532A>G (p.Lys511Arg)	EIF4B (K516R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510645	NM_001417.7(EIF4B):c.334A>G (p.Ile112Val)	EIF4B (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466740	NM_001417.7(EIF4B):c.1525G>T (p.Gly509Trp)	EIF4B (G509W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406141	NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln)	EIF4B (R376Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399366	NM_001417.7(EIF4B):c.155C>T (p.Ser52Leu)	EIF4B (S52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359042	NM_001417.7(EIF4B):c.1773C>G (p.Ser591Arg)	EIF4B (S591R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342133	NM_001417.7(EIF4B):c.968G>A (p.Arg323His)	EIF4B (R323H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298899	NM_001417.7(EIF4B):c.674G>A (p.Arg225Gln)	EIF4B (R225Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286108	NM_001417.7(EIF4B):c.392G>C (p.Ser131Thr)	EIF4B (S131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284259	NM_001417.7(EIF4B):c.266G>A (p.Arg89His)	EIF4B (R89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280044	NM_001417.7(EIF4B):c.1621G>A (p.Gly541Arg)	EIF4B (G541R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264666	NM_001417.7(EIF4B):c.1091C>T (p.Ala364Val)	EIF4B (A325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239608	NM_001417.7(EIF4B):c.1697A>G (p.Lys566Arg)	EIF4B (K571R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35