"Blueprint Genetics"[submitter] AND "CLN3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418137	NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	CLN3 (R405W +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 205100	NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)	CLN3 (V390M +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 3556	NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	CLN3 (E295K +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic
Select item 867043	NM_001042432.2(CLN3):c.867C>T (p.Val289=)	CLN3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 438225	NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	CLN3 (I285V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 865890	NM_001042432.2(CLN3):c.790G>C (p.Gly264Arg)	CLN3 (G164R +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866297	NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)	CLN3 (Q251* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 56284	NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	CLN3 (G192E +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 56278	NM_001042432.2(CLN3):c.533+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic