"SIB Swiss Institute of Bioinformatics"[submitter] AND "ERI1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686779	NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)	ERI1 (D134G +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 3061999	NM_153332.4(ERI1):c.514C>T (p.Gln172Ter)	ERI1 (Q172* +2 more)	Single nucleotide variant (nonsense)	Hoxha-Aliu syndrome	GLikely pathogenic
Select item 1686780	NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)	ERI1 (S184P +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674629	NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)	ERI1 (S21*)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674628	NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)	ERI1 (P155L +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674626	NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)	ERI1 (D298G +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674625	NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)	ERI1 (E150D +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674624	NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)	ERI1 (K118* +2 more)	Single nucleotide variant (nonsense)	Hoxha-Aliu syndrome	GLikely pathogenic