C1838570[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136805	NM_018941.4(CLN8):c.-123-4T>C	CLN8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 205200	NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	CLN8 (D6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 56709	NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	CLN8 (L16M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +4 more	GUncertain significance
Select item 205202	NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)	CLN8 (Y18F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 205203	NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)	CLN8 (S20C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 195346	NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	CLN8 (F32V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 698746	NM_018941.4(CLN8):c.288G>A (p.Ala96=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 700161	NM_018941.4(CLN8):c.300G>A (p.Gln100=)	CLN8	Single nucleotide variant (synonymous variant)	CLN8-related disorder +3 more	GLikely benign
Select item 1354506	NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)	CLN8 (N125I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant +2 more	GUncertain significance
Select item 56710	NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	CLN8 (Y158C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 205191	NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)	CLN8 (E186K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant +3 more	GUncertain significance
Select item 2804	NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	CLN8 (R204C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +4 more	GPathogenic/Likely pathogenic
Select item 527744	NM_018941.4(CLN8):c.697C>G (p.Leu233Val)	CLN8 (L233V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant +4 more	GUncertain significance
Select item 136803	NM_018941.4(CLN8):c.777T>C (p.Asn259=)	CLN8	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 196493	NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	CLN8 (E269V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +7 more	GConflicting classifications of pathogenicity