3274[HGNC] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 180728	NM_003755.5(EIF3G):c.947+103C>T	EIF3G, P2RY11	Single nucleotide variant (intron variant)	Cataplexy and narcolepsy	Gassociation
Select item 2671899	NM_003755.5(EIF3G):c.947+2dup	EIF3G	Duplication (splice donor variant)	EIF3G-related autism spectrum disorder	GUncertain significance
Select item 1183850	NM_003755.5(EIF3G):c.846T>C (p.Phe282=)	EIF3G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2549591	NM_003755.5(EIF3G):c.637T>A (p.Tyr213Asn)	EIF3G (Y213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087960	NM_003755.5(EIF3G):c.623A>G (p.Asn208Ser)	EIF3G (N208S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408605	NM_003755.5(EIF3G):c.617C>T (p.Thr206Met)	EIF3G (T206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737795	NM_003755.5(EIF3G):c.603G>T (p.Glu201Asp)	EIF3G (E201D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 180730	NM_003755.5(EIF3G):c.596-260T>C	EIF3G	Single nucleotide variant (intron variant)	Cataplexy and narcolepsy	Gassociation
Select item 3087959	NM_003755.5(EIF3G):c.429G>C (p.Glu143Asp)	EIF3G (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304657	NM_003755.5(EIF3G):c.284C>T (p.Ala95Val)	EIF3G (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338688	NM_003755.5(EIF3G):c.133C>T (p.Pro45Ser)	EIF3G (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087957	NM_003755.5(EIF3G):c.103C>T (p.Pro35Ser)	EIF3G (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612275	NM_003755.5(EIF3G):c.70A>G (p.Lys24Glu)	EIF3G (K24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087958	NM_003755.5(EIF3G):c.16T>C (p.Phe6Leu)	EIF3G (F6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224005	NM_003755.5(EIF3G):c.8C>G (p.Thr3Ser)	EIF3G (T3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 560043	Single allele	ANGPTL6, EIF3G +5 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	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: 22