"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374166	NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)	NPC1 (A1187G)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GLikely pathogenic
Select item 2966	NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	NPC1 (P1007A)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +10 more	GConflicting classifications of pathogenicity
Select item 188716	NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	NPC1 (S940L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189117	NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)	NPC1 (R934Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 132898	NM_000271.5(NPC1):c.2366G>A (p.Arg789His)	NPC1 (R789H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374167	NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe)	NPC1 (L684F)	Single nucleotide variant (missense variant)	Dystonic disorder	GLikely pathogenic
Select item 931815	NM_000271.5(NPC1):c.1947+17T>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 374049	NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)	NPC1 (P474L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +6 more	GPathogenic
Select item 931605	NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)	NPC1 (E61*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic