EIF3M[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2473596	NM_006360.6(EIF3M):c.257T>C (p.Leu86Pro)	EIF3M (L86P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275022	NM_006360.6(EIF3M):c.280C>T (p.Arg94Cys)	EIF3M (R94C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519712	NM_006360.6(EIF3M):c.292C>T (p.Arg98Cys)	EIF3M (R98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087975	NM_006360.6(EIF3M):c.497G>T (p.Arg166Ile)	EIF3M (R166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275021	NM_006360.6(EIF3M):c.790G>C (p.Asp264His)	EIF3M (D264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474262	NM_006360.6(EIF3M):c.806T>C (p.Leu269Ser)	EIF3M (L137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087976	NM_006360.6(EIF3M):c.874A>G (p.Ile292Val)	EIF3M (I160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275020	NM_006360.6(EIF3M):c.1016A>G (p.His339Arg)	EIF3M (H207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224915	NM_006360.6(EIF3M):c.1071G>C (p.Trp357Cys)	EIF3M (W357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375425	NM_006360.6(EIF3M):c.1080T>A (p.Asn360Lys)	EIF3M (N228K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139361	NM_001008391.4(CCDC73):c.3212C>G (p.Thr1071Arg)	CCDC73, EIF3M (T1071R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264289	NM_001008391.4(CCDC73):c.3211A>G (p.Thr1071Ala)	CCDC73, EIF3M (T1071A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264285	NM_001008391.4(CCDC73):c.3180C>A (p.Asp1060Glu)	CCDC73, EIF3M (D1060E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540110	NM_001008391.4(CCDC73):c.3126C>G (p.Ser1042Arg)	CCDC73, EIF3M (S1042R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464141	NM_001008391.4(CCDC73):c.3056C>T (p.Thr1019Ile)	CCDC73, EIF3M (T1019I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1711098	GRCh37/hg19 11p13(chr11:32579393-32681516)x1	CCDC73, EIF3M	Copy number loss	See cases	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35