"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NPC1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21140	NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	NPC1 (R1266Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 284662	NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)	NPC1 (S1200G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211683	NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 189174	NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	NPC1 (R1186H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +2 more	GPathogenic/Likely pathogenic
Select item 2959	NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	NPC1 (N1156S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic
Select item 508626	NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 92712	NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	NPC1 (V1115F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92711	NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 547997	NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	NPC1 (I1094T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 92710	NM_000271.5(NPC1):c.3246-20G>A	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1329775	NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)	NPC1 (T1068I)	Single nucleotide variant (missense variant)	NPC1-related disorder +3 more	GUncertain significance
Select item 2969	NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	NPC1 (G992R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 255695	NM_000271.5(NPC1):c.2911+28T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 188716	NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	NPC1 (S940L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 917636	NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)	NPC1 (R934*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +2 more	GPathogenic
Select item 21136	NM_000271.5(NPC1):c.2793C>T (p.Asn931=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1693718	NM_000271.5(NPC1):c.2674G>C (p.Val892Leu)	NPC1 (V892L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547890	NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)	NPC1 (Y875*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 558880	NM_000271.5(NPC1):c.2604+15dup	NPC1	Duplication (intron variant)	not provided	GBenign
Select item 522211	NM_000271.5(NPC1):c.2604+30del	NPC1	Deletion (intron variant)	not provided	GLikely benign
Select item 21135	NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	NPC1 (I858V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 326260	NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)	NPC1 (M834T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287771	NM_000271.5(NPC1):c.2257G>A (p.Val753Met)	NPC1 (V753M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1386174	NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys)	NPC1 (R714C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 558884	NM_000271.5(NPC1):c.2131-21dup	NPC1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 522212	NM_000271.5(NPC1):c.2131-5_2131-4del	NPC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 403254	NM_000271.5(NPC1):c.2131-4del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 282052	NM_000271.5(NPC1):c.2131-6_2131-4del	NPC1	Deletion (intron variant)	not specified	GBenign
Select item 558885	NM_000271.5(NPC1):c.2130+26T>A	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194159	NM_000271.5(NPC1):c.2103C>T (p.Asn701=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 194158	NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 92702	NM_000271.5(NPC1):c.1947+10G>C	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 92701	NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	NPC1 (M642I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 500953	NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)	NPC1 (A521S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558886	NM_000271.5(NPC1):c.1554-1010C>T	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558887	NM_000271.5(NPC1):c.1554-1016C>T	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558888	NM_000271.5(NPC1):c.1554-1021A>T	NPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 199002	NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 554990	NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	NPC1 (E451K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GConflicting classifications of pathogenicity
Select item 501091	NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)	NPC1 (I450V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 836745	NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)	NPC1 (H441Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 558889	NM_000271.5(NPC1):c.956-7C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 289805	NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)	NPC1 (W291C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 1404042	NM_000271.5(NPC1):c.763C>T (p.Pro255Ser)	NPC1 (P255S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683451	NM_000271.5(NPC1):c.746C>T (p.Pro249Leu)	NPC1 (P249L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21142	NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	NPC1 (P237S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 92715	NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	NPC1 (N222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 92714	NM_000271.5(NPC1):c.644A>G (p.His215Arg)	NPC1 (H215R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 471944	NM_000271.5(NPC1):c.540C>T (p.Asp180=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 129811	NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 593342	NM_000271.5(NPC1):c.180G>T (p.Gln60His)	NPC1 (Q60H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 255701	NM_000271.5(NPC1):c.66A>G (p.Ser22=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 255689	NM_000271.5(NPC1):c.-22A>C	NPC1	Single nucleotide variant (5 prime UTR variant)	Niemann-Pick disease, type C1 +2 more	GBenign

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Items: 53