ClinVar for Gene (Select 1982) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275066	NM_001418.4(EIF4G2):c.946C>T (p.Leu316Phe)	EIF4G2 (L316F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275065	NM_001418.4(EIF4G2):c.857T>C (p.Leu286Ser)	EIF4G2 (L286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275064	NM_001418.4(EIF4G2):c.324A>G (p.Lys108=)	EIF4G2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3275063	NM_001418.4(EIF4G2):c.1304T>A (p.Leu435Gln)	EIF4G2 (L435Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275061	NM_001418.4(EIF4G2):c.1349T>A (p.Leu450Gln)	EIF4G2 (L450Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275060	NM_001418.4(EIF4G2):c.1328G>A (p.Ser443Asn)	EIF4G2 (S443N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275059	NM_001418.4(EIF4G2):c.2282A>G (p.Lys761Arg)	EIF4G2 (K761R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275058	NM_001418.4(EIF4G2):c.1342T>C (p.Ser448Pro)	EIF4G2 (S448P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275057	NM_001418.4(EIF4G2):c.1144G>A (p.Gly382Arg)	EIF4G2 (G382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275056	NM_001418.4(EIF4G2):c.46T>G (p.Ser16Ala)	EIF4G2 (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088049	NM_001418.4(EIF4G2):c.74C>T (p.Ala25Val)	EIF4G2 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088048	NM_001418.4(EIF4G2):c.292C>T (p.Leu98Phe)	EIF4G2 (L98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088047	NM_001418.4(EIF4G2):c.2114T>C (p.Leu705Pro)	EIF4G2 (L667P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088046	NM_001418.4(EIF4G2):c.1826A>G (p.Gln609Arg)	EIF4G2 (Q571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088045	NM_001418.4(EIF4G2):c.1780G>A (p.Asp594Asn)	EIF4G2 (D556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088044	NM_001418.4(EIF4G2):c.1756A>T (p.Ile586Phe)	EIF4G2 (I548F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088043	NM_001418.4(EIF4G2):c.1697A>G (p.Asn566Ser)	EIF4G2 (N528S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088042	NM_001418.4(EIF4G2):c.1414A>G (p.Ile472Val)	EIF4G2 (I434V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088041	NM_001418.4(EIF4G2):c.1019C>T (p.Ala340Val)	EIF4G2 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617358	NM_001418.4(EIF4G2):c.1946G>A (p.Arg649His)	EIF4G2 (R649H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551836	NM_001418.4(EIF4G2):c.1793A>T (p.Glu598Val)	EIF4G2 (E560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546371	NM_001418.4(EIF4G2):c.723A>T (p.Arg241Ser)	EIF4G2 (R241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524377	NM_001418.4(EIF4G2):c.1051T>C (p.Phe351Leu)	EIF4G2 (F351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461075	NM_001418.4(EIF4G2):c.1774A>G (p.Arg592Gly)	EIF4G2 (R592G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401773	NM_001418.4(EIF4G2):c.449C>T (p.Ala150Val)	EIF4G2 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370977	NM_001418.4(EIF4G2):c.1210A>C (p.Asn404His)	EIF4G2 (N404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334925	NM_001418.4(EIF4G2):c.166A>G (p.Thr56Ala)	EIF4G2 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253475	NM_001418.4(EIF4G2):c.965C>T (p.Thr322Met)	EIF4G2 (T322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222707	NM_001418.4(EIF4G2):c.1958C>T (p.Ser653Leu)	EIF4G2 (S615L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215753	NM_001418.4(EIF4G2):c.55G>A (p.Gly19Arg)	EIF4G2 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879200	NM_001418.4(EIF4G2):c.115C>T (p.Leu39=)	EIF4G2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	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 714497	NM_001418.4(EIF4G2):c.1875A>G (p.Val625=)	EIF4G2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
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 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	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 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43