C5551375[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	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)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1436886	NM_017882.3(CLN6):c.919G>A (p.Val307Ile)	CLN6 (V307I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 550973	NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	CLN6 (P299L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GPathogenic/Likely pathogenic
Select item 457976	NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)	CLN6 (R252C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205174	NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	CLN6 (A243V)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +4 more	GUncertain significance
Select item 699191	NM_017882.3(CLN6):c.717C>T (p.Phe239=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 555430	NM_017882.3(CLN6):c.486+1G>A	CLN6	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +3 more	GLikely pathogenic
Select item 4083	NC_000015.9:g.68504037_68504039delGAT	CLN6 (I154del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GPathogenic/Likely pathogenic
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +2 more	GUncertain significance
Select item 1015733	NM_017882.3(CLN6):c.317G>A (p.Arg106His)	CLN6 (R106H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 205162	NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)	CLN6 (F85L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
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
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