Related gene-specific medical variations for Gene (Select 90459) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063007	GRCh37/hg19 8p23.1(chr8:8847086-8942231)x1	ERI1	Copy number loss	not specified	GUncertain significance
Select item 2674633	NM_153332.4(ERI1):c.582+1G>A	ERI1	Single nucleotide variant (splice donor variant)	Hoxha-Aliu syndrome	GPathogenic
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 2674627	NM_153332.4(ERI1):c.893A>C (p.Asp298Ala)	ERI1 (D298A +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GPathogenic
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
Select item 815090	GRCh37/hg19 8p23.1(chr8:8812264-8867363)x1	ERI1	Copy number loss	not provided	GLikely benign
Select item 563444	GRCh37/hg19 8p23.1(chr8:8812264-8969433)x1	ERI1	Copy number loss	not provided	GUncertain significance
Select item 152190	GRCh38/hg38 8p23.1(chr8:9095400-9124781)x1	ERI1	Copy number loss	See cases	GBenign