ClinVar for MedGen (Select 7230) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984030	NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)	CLN6 (W73*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 984029	NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)	CLN6 (Q143*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 984028	NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)	CLN6 (E167*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 579778	NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)	CLN6 (G14D)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 452272	NM_017882.3(CLN6):c.482C>T (p.Thr161Met)	CLN6 (T161M)	Single nucleotide variant (missense variant)	Adult neuronal ceroid lipofuscinosis +5 more	GUncertain significance
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +7 more	GConflicting classifications of pathogenicity
Select item 193389	NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	CLN6 (A18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity

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