"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLN6"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033916	NM_017882.3(CLN6):c.*141GT[7]	CLN6	Microsatellite (3 prime UTR variant)	CLN6-related disorder	GLikely benign
Select item 3030847	NM_017882.3(CLN6):c.*151G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	CLN6-related disorder	GLikely benign
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +7 more	GConflicting classifications of pathogenicity
Select item 384955	NM_017882.3(CLN6):c.873G>A (p.Pro291=)	CLN6	Single nucleotide variant (synonymous variant)	CLN6-related disorder +2 more	GLikely benign
Select item 136800	NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)	CLN6 (S257G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 415535	NM_017882.3(CLN6):c.564C>A (p.Ile188=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1142064	NM_017882.3(CLN6):c.534C>T (p.His178=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 128786	NM_017882.3(CLN6):c.486+8C>T	CLN6	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 316995	NM_017882.3(CLN6):c.298-15C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 205154	NM_017882.3(CLN6):c.270C>T (p.Asn90=)	CLN6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 193389	NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	CLN6 (A18V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity