"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CLN6"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +7 more	GConflicting classifications of pathogenicity
Select item 415533	NM_017882.3(CLN6):c.840G>A (p.Leu280=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 205182	NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	CLN6 (S265del)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 136800	NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)	CLN6 (S257G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign/Likely benign
Select item 128786	NM_017882.3(CLN6):c.486+8C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 968495	NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)	CLN6 (R110C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 559017	NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)	CLN6 (S104Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 136802	NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	CLN6 (A12T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 457969	NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	CLN6 (R5W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205179	NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	CLN6 (E2G)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GConflicting classifications of pathogenicity