C3179455[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813480	NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	SMPD1 (R417* +2 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type C1 +2 more	GPathogenic
Select item 555325	NM_000271.5(NPC1):c.3754+3A>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 3241987	NM_000271.5(NPC1):c.3508C>T (p.His1170Tyr)	NPC1 (H1170Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2585598	NM_000271.5(NPC1):c.3232del (p.Val1078fs)	NPC1 (V1078fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1339060	NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu)	NPC1 (A840E)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 554973	NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)	NPC1 (R789C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2585114	NM_000271.5(NPC1):c.2072dup (p.Phe692fs)	NPC1 (F692fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 132890	NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	NPC1 (R518Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3250450	NM_000271.5(NPC1):c.1189C>T (p.Gln397Ter)	NPC1 (Q397*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2584912	NM_000271.5(NPC1):c.1103T>C (p.Leu368Pro)	NPC1 (L368P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1405310	NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)	NPC1 (R348*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +2 more	GPathogenic/Likely pathogenic
Select item 3242050	NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)	NPC1 (G319*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2585184	NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)	NPC1	Microsatellite (inframe_insertion)	Niemann-Pick disease, type C1	GUncertain significance
Select item 3242177	NM_000271.5(NPC1):c.337_340dup (p.Ser114delinsMetTer)	NPC1	Duplication (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 500461	NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)	NPC1 (F101C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2138138	NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)	NPC1 (Q92R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 2663967	NM_000271.5(NPC1):c.91T>C (p.Cys31Arg)	NPC1 (C31R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance