"CLN3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 8

	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 287485	NM_001042432.2(CLN3):c.1198-5C>T	CLN3	Single nucleotide variant (intron variant)	CLN3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 205084	NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)	CLN3 (R341H +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GLikely benign
Select item 56285	NM_001042432.2(CLN3):c.582G>T (p.Leu194=)	CLN3	Single nucleotide variant (synonymous variant)	CLN3-related disorder +3 more	GLikely benign
Select item 409262	NM_001042432.2(CLN3):c.460+3G>A	CLN3	Single nucleotide variant (intron variant)	CLN3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 197712	NM_001042432.2(CLN3):c.240G>A (p.Thr80=)	CLN3 (R7H)	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign/Likely benign
Select item 418136	NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	CLN3 (T80S +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +4 more	GConflicting classifications of pathogenicity
Select item 550268	NM_001042432.2(CLN3):c.1A>G (p.Met1Val)	CLN3 (M1V)	Single nucleotide variant (missense variant +2 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic