ClinVar (all) for Orgtrack (Select 500243) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132902	NM_006432.5(NPC2):c.3G>C (p.Met1Ile)	NPC2 (M1I)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 132901	NM_000271.5(NPC1):c.416dup (p.Asn140fs)	NPC1 (N140fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132900	NM_000271.5(NPC1):c.2912-3C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 132899	NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter)	NPC1 (Y932*)	Duplication (nonsense)	Niemann-Pick disease, type C1	GPathogenic
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 132897	NM_000271.5(NPC1):c.2302dup (p.Val768fs)	NPC1 (V768fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132896	NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)	NPC1 (V744fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 132895	NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)	NPC1 (R726T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132894	NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)	NPC1 (Q710*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 132893	NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)	NPC1 (I685T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132892	NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)	NPC1 (D611G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132891	NM_000271.5(NPC1):c.1800del (p.Ile601fs)	NPC1 (I601fs)	Deletion (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 132889	NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)	NPC1 (D501V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 132888	NM_000271.5(NPC1):c.1030del (p.Ser344fs)	NPC1 (S344fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic