ClinVar for PubMed (Select 10861296) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2749928	NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	CLN8 (M1L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 558594	NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	CLN8 (Q255*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 556561	NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)	CLN8 (Y227*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 8	GUncertain significance
Select item 487522	NM_018941.4(CLN8):c.1A>G (p.Met1Val)	CLN8 (M1V)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 424769	NM_018941.3(CLN8):c.[212C>T];[562_563delCT]			Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 205194	NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	CLN8 (E167*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 56713	NM_018941.4(CLN8):c.562_563del (p.Leu188fs)	CLN8 (L188fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 2802	NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	CLN8 (R24G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic

ClinVar