"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136785	NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	CLN3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128776	NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)	CLN3 (H404R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 128775	NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	CLN3 (H404N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 136780	NM_001042432.2(CLN3):c.831G>A (p.Val277=)	CLN3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 389056	NM_001042432.2(CLN3):c.777G>A (p.Pro259=)	CLN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 136790	NM_001042432.2(CLN3):c.771G>A (p.Glu257=)	CLN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 318722	NM_001042432.2(CLN3):c.677+8G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 205105	NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	CLN3 (P81L +2 more)	Single nucleotide variant (missense variant +2 more)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 457951	NM_001042432.2(CLN3):c.222T>C (p.His74=)	CLN3 (M1T)	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 136783	NM_001042432.2(CLN3):c.45G>A (p.Glu15=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign