"SNPedia"[submitter] AND "CLN6"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68098	NM_017882.3(CLN6):c.890del (p.Pro297fs)	CLN6 (P297fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68097	NM_017882.3(CLN6):c.712T>A (p.Phe238Ile)	CLN6 (F238I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 30600	NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	CLN6 (R103Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 68095	NM_017882.3(CLN6):c.231C>G (p.Asn77Lys)	CLN6 (N77K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 30599	NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)	CLN6 (L67P)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	GPathogenic
Select item 68094	NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	CLN6 (Y50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30601	NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	CLN6 (L47F)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 30602	NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)	CLN6 (R6T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	GPathogenic