"Baylor Genetics"[submitter] AND "CLN8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56704	NM_018941.4(CLN8):c.209G>A (p.Arg70His)	CLN8 (R70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 205207	NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	CLN8 (N125S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +5 more	GConflicting classifications of pathogenicity
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625667	GRCh37/hg19 8p23.3(chr8:184617-2136799)	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GLikely pathogenic

ClinVar