EIF3G[gene] - ClinVar

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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_002566.4(P2RY11):c.*638G>A	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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

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Items: 22