ClinVar for MedGen (Select 481901) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235045	NM_198241.3(EIF4G1):c.3775A>T (p.Met1259Leu)	EIF4G1 (M1064L +6 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 3234964	NM_198241.3(EIF4G1):c.1657A>G (p.Asn553Asp)	EIF4G1 (N357D +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 3064697	NM_198241.3(EIF4G1):c.3517C>G (p.Arg1173Gly)	EIF4G1 (R1009G +6 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 2671643	NM_198241.3(EIF4G1):c.956C>G (p.Pro319Arg)	EIF4G1 (P123R +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 2581015	NM_198241.3(EIF4G1):c.1570A>G (p.Lys524Glu)	EIF4G1 (K328E +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 1704309	NM_198241.3(EIF4G1):c.3188C>T (p.Pro1063Leu)	EIF4G1 (P1023L +6 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 1334462	NM_198241.3(EIF4G1):c.536C>T (p.Thr179Met)	EIF4G1 (T139M +4 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 1210099	NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=)	EIF4G1	Single nucleotide variant (synonymous variant)	Parkinson disease 18, autosomal dominant, susceptibility to +1 more	GLikely benign
Select item 1210075	NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=)	EIF4G1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1030449	NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His)	EIF4G1 (L1275H +6 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 709404	NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=)	EIF4G1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 518346	NM_198241.3(EIF4G1):c.3953+9A>G	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518345	NM_198241.3(EIF4G1):c.3325+16C>T	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518344	NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val)	EIF4G1 (M432V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 30073	NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val)	EIF4G1 (A502V +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	Grisk factor
Select item 30072	NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His)	EIF4G1 (R1205H +6 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	Grisk factor