"Myriad Genetics, Inc."[submitter] AND "CLN3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726197	NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)	CLN3 (W246* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 205095	NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	CLN3 (V330I +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 983870	NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)	CLN3 (W221* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1725286	NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)	CLN3 (Y184* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1726643	NM_001042432.2(CLN3):c.849del (p.Trp283fs)	CLN3 (W183fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1725180	NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)	CLN3 (Q104* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GPathogenic/Likely pathogenic
Select item 1726715	NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)	CLN3 (Y122* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1726924	NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)	CLN3 (A19E +2 more)	Single nucleotide variant (nonsense +2 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 205106	NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)	CLN3 (R89Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 950856	NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	CLN3 (A5T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity