MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Niemann-Pick Disease, Type C (D052556)
..Starting node ..Niemann-Pick disease, type C2 (C536119)
Child Nodes:
Sister Nodes:
..Niemann-Pick Disease, Nova Scotian Type (C564941)
..Niemann-Pick disease, type C2 (C536119)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8921

Name:

Niemann-Pick disease, type C2

Definition:

Alternative IDs:

OMIM:607625

ParentIDs:

MESH:D052556

TreeNumbers:

C10.228.140.163.100.435.825.700.875/C536119 |C15.604.250.410.625.875/C536119 |C16.320.565.189.435.825.700.875/C536119 |C16.320.565.398.641.803.730.875/C536119 |C16.320.565.595.554.825.700.875/C536119 |C18.452.132.100.435.825.700.875/C536119 |C18.452.584.687.80

Synonyms:

NPC2

Slim Mappings:

Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease

Reference:

MedGen: C536119
MeSH: C536119
OMIM: 607625;
MSeqDR :
Genes: NPC2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003674	Onset
3	HP:0003464	Abnormal cholesterol homeostasis
4	HP:0001251	Ataxia
5	HP:0004333	Bone-marrow foam cells
6	HP:0002524	Cataplexy
7	HP:0000726	Dementia NAMDC: Dementia
8	HP:0001260	Dysarthria NAMDC: Dysarthria
9	HP:0002015	Dysphagia NAMDC: Dysphagia
10	HP:0001332	Dystonia NAMDC: Dystonia
11	HP:0001791	Fetal ascites
12	HP:0003640	Foam cells in visceral organs and CNS
13	HP:0001290	Generalized hypotonia
14	HP:0001263	Global developmental delay NAMDC: Mental retardation
15	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
16	HP:0002240	Hepatomegaly
17	HP:0001425	Heterogeneous
18	HP:0001249	Intellectual disability
19	HP:0002371	Loss of speech
20	HP:0003349	Low cholesterol esterification rates
21	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
22	HP:0002185	Neurofibrillary tangles
23	HP:0030223	Perseveration
24	HP:0006579	Prolonged neonatal jaundice
25	HP:0000709	Psychosis
26	HP:0002878	Respiratory failure
27	HP:0002093	Respiratory insufficiency
28	HP:0001982	Sea-blue histiocytosis
29	HP:0001250	Seizures NAMDC: Seizures
30	HP:0001257	Spasticity NAMDC: Spasticity
31	HP:0001744	Splenomegaly
32	HP:0000733	Stereotypy
33	HP:0000511	Vertical supranuclear gaze palsy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006432.5(NPC2):c.441+1G>A	-1	ACYP1;NPC2	Conflicting interpretations of pathogenicity	140130028	RCV000087100\|RCV000153589\|RCV001121868\|RCV002281928;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MedGen:C3661900\|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MedGen:CN169374	14	74947404	74947404	14:g.74947404C>T	ClinGen:CA234414	C1843366 607625 Niemann-Pick disease type C2;
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)	4864	NPC1	Pathogenic	-1	RCV002291523;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	18	21121352	21121352	21121352	-
NC_000014.9:g.(?_74480254)_(74486456_?)del	10577	NPC2	Uncertain significance	-1	RCV000811363;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946957	74953159		-
NC_000014.9:g.(?_74480264)_(74493284_?)del	10577	NPC2	Pathogenic	-1	RCV001031821;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946967	74959987	-1	-
NC_000014.8:g.(?_74946967)_(74947492_?)del	10577	NPC2	Pathogenic	-1	RCV003109517;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946967	74947492		-
NM_006432.5(NPC2):c.455A>G (p.Ter152=)	10577	NPC2	Likely benign	1162911732	RCV001391989;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946978	74946978	74946978	-
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)	10577	NPC2	Uncertain significance	2086642019	RCV001278148;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946979	74946979	14:g.74946979A>G	-
NM_006432.5(NPC2):c.453C>G (p.Leu151=)	10577	NPC2	Conflicting interpretations of pathogenicity	766378122	RCV000385115\|RCV001859664;	N	MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946980	74946980	14:g.74946980G>C	ClinGen:CA7268083	CN169374 not specified;
NM_006432.5(NPC2):c.453C>T (p.Leu151=)	10577	NPC2	Likely benign	766378122	RCV002187220;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946980	74946980	74946980	-
NM_006432.5(NPC2):c.450T>C (p.His150=)	10577	NPC2	Conflicting interpretations of pathogenicity	374489111	RCV000382282\|RCV001085986\|RCV002338827;	N	MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74946983	74946983	14:g.74946983A>G	ClinGen:CA7268085	CN169374 not specified;
NM_006432.5(NPC2):c.442-1G>A	10577	NPC2	Uncertain significance	1555345562	RCV000671920;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946992	74946992	14:g.74946992C>T	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.442-4A>C	10577	NPC2	Benign/Likely benign	114950106	RCV000178919\|RCV000320741\|RCV000675983\|RCV001081149;	N	MedGen:CN169374\|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946995	74946995	14:g.74946995T>G	ClinGen:CA203088	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.442-4A>G	10577	NPC2	Likely benign	114950106	RCV001459123;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946995	74946995	74946995	-
NM_006432.5(NPC2):c.442-8A>C	10577	NPC2	Likely benign	758764082	RCV001497274;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74946999	74946999	74946999	-
NM_006432.5(NPC2):c.442-10A>G	10577	NPC2	Likely benign	-1	RCV002834462;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947001	74947001	NC_000014.8:g.74947001T>C	-
NM_006432.5(NPC2):c.441+13G>A	10577	NPC2	Likely benign	-1	RCV002620803;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947392	74947392	NC_000014.8:g.74947392C>T	-
NM_006432.5(NPC2):c.441+9A>G	10577	NPC2	Likely benign	372464598	RCV001494349;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947396	74947396	74947396	-
NM_006432.5(NPC2):c.441+9A>T	10577	NPC2	Likely benign	372464598	RCV002208952;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947396	74947396	74947396	-
NM_006432.5(NPC2):c.441+8T>C	10577	NPC2	Likely benign	-1	RCV002666871;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947397	74947397	NC_000014.8:g.74947397A>G	-
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg)	10577	NPC2	Uncertain significance	2139664443	RCV002031362;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947409	74947409	74947409	-
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	10577	NPC2	Pathogenic/Likely pathogenic	104894457	RCV000009006\|RCV002468967;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74947410	74947410	14:g.74947410G>A	ClinGen:CA254412,OMIM:601015.0009	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.429C>A (p.Ile143=)	10577	NPC2	Likely benign	528199992	RCV002209186;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947417	74947417	74947417	-
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	10577	NPC2	Pathogenic/Likely pathogenic	1555345616	RCV000668992;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947424	74947424	14:g.74947424C>T	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)	10577	NPC2	Uncertain significance	781255433	RCV000670563;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947424	74947426	14:g.74947424_74947426del	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.414C>A (p.Leu138=)	10577	NPC2	Likely benign	1323196897	RCV001278149;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947432	74947432	14:g.74947432G>T	-
NM_006432.5(NPC2):c.414C>T (p.Leu138=)	10577	NPC2	Likely benign	-1	RCV002889254;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947432	74947432		-
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu)	10577	NPC2	Uncertain significance	2086648005	RCV001965655;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947440	74947440	74947440	-
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)	10577	NPC2	Uncertain significance	-1	RCV003029567;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947446	74947446	NC_000014.8:g.74947446T>G	-
NM_006432.5(NPC2):c.393G>A (p.Gln131=)	10577	NPC2	Likely benign	-1	RCV003019432;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947453	74947453		-
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)	10577	NPC2	Uncertain significance	-1	RCV002756550;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947458	74947458	NC_000014.8:g.74947458G>A	-
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp)	10577	NPC2	Uncertain significance	1412520435	RCV001896743;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947465	74947465	74947465	-
NM_006432.5(NPC2):c.375G>A (p.Val125=)	10577	NPC2	Likely benign	2139664539	RCV002181318;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947471	74947471	74947471	-
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)	10577	NPC2	Uncertain significance	-1	RCV003056900;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947473	74947473	NC_000014.8:g.74947473C>A	-
NM_006432.5(NPC2):c.372G>C (p.Leu124=)	10577	NPC2	Likely benign	2139664545	RCV001457154;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947474	74947474	74947474	-
NM_006432.5(NPC2):c.370C>T (p.Leu124=)	10577	NPC2	Likely benign	757968557	RCV001483582;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947476	74947476	74947476	-
NM_006432.5(NPC2):c.364-2A>G	10577	NPC2	Likely pathogenic	777654308	RCV000665605;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947484	74947484	14:g.74947484T>C	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.364-3C>T	10577	NPC2	Uncertain significance	927248655	RCV001976825;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947485	74947485	74947485	-
NM_006432.5(NPC2):c.364-8T>G	10577	NPC2	Likely benign	1352203929	RCV001400264;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947490	74947490	14:g.74947490A>C	-
NM_006432.5(NPC2):c.364-10C>T	10577	NPC2	Likely benign	2086648557	RCV001442817;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947492	74947492	74947492	-
NM_006432.5(NPC2):c.364-11T>C	10577	NPC2	Likely benign	751545027	RCV002116513;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947493	74947493	74947493	-
NM_006432.5(NPC2):c.364-13T>C	10577	NPC2	Likely benign	897207821	RCV002166609;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74947495	74947495	74947495	-
NM_006432.5(NPC2):c.363+16_363+18del	10577	NPC2	Likely benign	747880187	RCV002119160;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951100	74951102	74951099	-
NM_006432.5(NPC2):c.363+17T>C	10577	NPC2	Likely benign	-1	RCV002636942;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951101	74951101	NC_000014.8:g.74951101A>G	-
NC_000014.8:g.(?_74951108)_(74953149_?)del	10577	NPC2	Pathogenic	-1	RCV003109516;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951108	74953149		-
NM_006432.5(NPC2):c.363+7G>A	10577	NPC2	Conflicting interpretations of pathogenicity	200463204	RCV000375313\|RCV000593664\|RCV000611646\|RCV001579721;	N	MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MedGen:CN169374\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MedGen:C3661900	14	74951111	74951111	NC_000014.8:g.74951111C>T	ClinGen:CA7268143	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.360C>T (p.Pro120=)	10577	NPC2	Likely benign	-1	RCV002701527;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951121	74951121		-
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	10577	NPC2	Pathogenic	104894458	RCV000009007\|RCV001528117;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646	14	74951123	74951123	14:g.74951123G>A	ClinGen:CA254414,UniProtKB:P61916#VAR_043307,OMIM:601015.0010	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)	10577	NPC2	Likely pathogenic	-1	RCV003338128;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951123	74951123		-
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)	10577	NPC2	Likely pathogenic	2086687086	RCV001263847;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951124	74951124	14:g.74951124A>T	-
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	10577	NPC2	Pathogenic	80358266	RCV000009001\|RCV001193596;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74951129	74951129	14:g.74951129C>A	ClinGen:CA340791,OMIM:601015.0004	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys)	10577	NPC2	Uncertain significance	80358266	RCV000729307\|RCV002535113;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951129	74951129	NC_000014.8:g.74951129C>T	-
NM_006432.5(NPC2):c.351C>T (p.Ser117=)	10577	NPC2	Uncertain significance	1183033999	RCV001880390;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951130	74951130	74951130	-
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)	10577	NPC2	Uncertain significance	-1	RCV002299334;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951132	74951132	74951132	-
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)	10577	NPC2	Likely pathogenic	-1	RCV002309790;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951142	74951145	74951142	-
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)	10577	NPC2	Likely pathogenic	2086687425	RCV001263848;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951147	74951147	14:g.74951147T>A	-
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)	10577	NPC2	Uncertain significance	757377148	RCV000665380;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951148	74951148	14:g.74951148A>C	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.332del (p.Asn111fs)	10577	NPC2	Uncertain significance	80358265	RCV000020647;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951149	74951149	14:g.74951149_74951149del	ClinGen:CA342112,OMIM:601015.0002	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.330G>C (p.Leu110=)	10577	NPC2	Likely benign	762424530	RCV001434221;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951151	74951151	74951151	-
NM_006432.5(NPC2):c.327C>T (p.Tyr109=)	10577	NPC2	Likely benign	2139667951	RCV002074588;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951154	74951154	74951154	-
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)	10577	NPC2	Likely benign	-1	RCV002954047;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951160	74951160		-
NM_006432.5(NPC2):c.318C>G (p.Thr106=)	10577	NPC2	Likely benign	763613633	RCV001435607;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951163	74951163	74951163	-
NM_006432.5(NPC2):c.318C>T (p.Thr106=)	10577	NPC2	Likely benign	763613633	RCV002188228;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951163	74951163	74951163	-
NM_006432.5(NPC2):c.315G>A (p.Lys105=)	10577	NPC2	Likely benign	-1	RCV002823856;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951166	74951166		-
NM_006432.5(NPC2):c.312C>T (p.Asp104=)	10577	NPC2	Likely benign	751455041	RCV002148200;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951169	74951169	74951169	-
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg)	10577	NPC2	Uncertain significance	930750290	RCV001878129\|RCV002553534;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951176	74951176	74951176	-
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)	10577	NPC2	Likely pathogenic	2086687862	RCV001263849;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951177	74951177	14:g.74951177G>A	-
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)	10577	NPC2	Uncertain significance	-1	RCV003067900;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951178	74951178	NC_000014.8:g.74951178G>C	-
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter)	10577	NPC2	Likely pathogenic	2086687936	RCV001263850;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951184	74951184	14:g.74951184G>T	-
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp)	10577	NPC2	Likely pathogenic	2086687936	RCV001806310;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951184	74951184	74951184	-
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)	10577	NPC2	Uncertain significance	-1	RCV003022697;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951185	74951185	NC_000014.8:g.74951185C>A	-
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)	10577	NPC2	Pathogenic	80358264	RCV000020646\|RCV003398552;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74951186	74951186	14:g.74951186A>G	ClinGen:CA342111,UniProtKB:P61916#VAR_043306	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.292A>C (p.Asn98His)	10577	NPC2	Uncertain significance	142858704	RCV000439975\|RCV000763943\|RCV002524717;	N	MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951189	74951189	14:g.74951189T>G	ClinGen:CA7268151	CN517202 not provided;
NM_006432.5(NPC2):c.281dup (p.Ser95fs)	10577	NPC2	Pathogenic	2139668010	RCV001953743;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951199	74951200	74951199	-
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)	10577	NPC2	Pathogenic/Likely pathogenic	1376058648	RCV001388699\|RCV003120598;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74951201	74951202	74951201	-
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)	10577	NPC2	Conflicting interpretations of pathogenicity	143960270	RCV001580747;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951203	74951203	74951203	-
NM_006432.5(NPC2):c.276T>C (p.Gly92=)	10577	NPC2	Likely benign	-1	RCV002662347;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951205	74951205		-
NM_006432.5(NPC2):c.273T>C (p.Asp91=)	10577	NPC2	Conflicting interpretations of pathogenicity	151071820	RCV000887835\|RCV001115295\|RCV001531810\|RCV003307667;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	14	74951208	74951208	14:g.74951208A>G	-
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)	10577	NPC2	Uncertain significance	148607507	RCV000338408\|RCV000763944\|RCV002522031;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951210	74951210	14:g.74951210C>T	ClinGen:CA7268155	CN169374 not specified;
NM_006432.5(NPC2):c.270T>C (p.Pro90=)	10577	NPC2	Conflicting interpretations of pathogenicity	758503440	RCV000295328\|RCV001414410\|RCV002436117;	N	MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951211	74951211	14:g.74951211A>G	ClinGen:CA7268156	CN169374 not specified;
NM_006432.5(NPC2):c.264T>C (p.Pro88=)	10577	NPC2	Conflicting interpretations of pathogenicity	1011669605	RCV000592569\|RCV001472552;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951217	74951217	14:g.74951217A>G	ClinGen:CA263660929	CN169374 not specified;
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser)	10577	NPC2	Uncertain significance	2139668049	RCV001757977\|RCV002032783;	N	MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951219	74951219	74951219	-
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)	10577	NPC2	Uncertain significance	-1	RCV002750116;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951222	74951222	NC_000014.8:g.74951222T>A	-
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)	10577	NPC2	Likely pathogenic	-1	RCV002309655;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951231	74951232	74951231	-
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)	10577	NPC2	Uncertain significance	-1	RCV002647806;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951240	74951240	NC_000014.8:g.74951240C>T	-
NM_006432.5(NPC2):c.240C>T (p.Gly80=)	10577	NPC2	Conflicting interpretations of pathogenicity	773836291	RCV000734821\|RCV001578732;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951241	74951241	NC_000014.8:g.74951241G>A	-
NM_006432.5(NPC2):c.234G>A (p.Leu78=)	10577	NPC2	Likely benign	-1	RCV002857749;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951247	74951247		-
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)	10577	NPC2	Uncertain significance	-1	RCV002781030;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951249	74951249	NC_000014.8:g.74951249G>C	-
NM_006432.5(NPC2):c.222G>C (p.Val74=)	10577	NPC2	Likely benign	763523833	RCV001460950;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951259	74951259	14:g.74951259C>G	-
NM_006432.5(NPC2):c.222G>A (p.Val74=)	10577	NPC2	Likely benign	763523833	RCV002083026;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951259	74951259	74951259	-
NM_006432.5(NPC2):c.218del (p.Val73fs)	10577	NPC2	Likely pathogenic	-1	RCV002306854;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951263	74951263	74951262	-
NM_006432.5(NPC2):c.217G>A (p.Val73Met)	10577	NPC2	Uncertain significance	-1	RCV002995885;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951264	74951264	NC_000014.8:g.74951264C>T	-
NM_006432.5(NPC2):c.216C>T (p.Ala72=)	10577	NPC2	Likely benign	773861377	RCV001444503\|RCV002421004;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951265	74951265	74951265	-
NM_006432.5(NPC2):c.216C>A (p.Ala72=)	10577	NPC2	Likely benign	773861377	RCV002155322;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951265	74951265	74951265	-
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)	10577	NPC2	Pathogenic	2086689501	RCV001061725;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951267	74951268	14:g.74951267_74951268insCTTG	-
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)	10577	NPC2	Uncertain significance	142075589	RCV000335990\|RCV000595194\|RCV000818277\|RCV002522323;	N	MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MedGen:C3661900\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74951269	74951269	NC_000014.8:g.74951269T>C	ClinGen:CA7268167	C0220756 Niemann-Pick disease, type C;
NM_006432.5(NPC2):c.207C>T (p.Ser69=)	10577	NPC2	Likely benign	970173671	RCV001505687;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951274	74951274	74951274	-
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)	10577	NPC2	Uncertain significance	-1	RCV002629838;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951278	74951279	NC_000014.8:g.74951278_74951279inv	-
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu)	10577	NPC2	Uncertain significance	750426509	RCV001966904;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951279	74951279	74951279	-
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro)	10577	NPC2	Pathogenic	11694	RCV000009003;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951282	74951282	14:g.74951282A>G	ClinGen:CA340793,UniProtKB:P61916#VAR_015849,OMIM:601015.0006	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.191-1_193del	10577	NPC2	Likely pathogenic	1555345873	RCV000670585;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951288	74951291	14:g.74951288_74951291del	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile)	10577	NPC2	Uncertain significance	1391222276	RCV001970713;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951290	74951290	74951290	-
NM_006432.5(NPC2):c.191-14dup	10577	NPC2	Benign	748909227	RCV001512580;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951297	74951298	74951297	-
NM_006432.5(NPC2):c.191-7C>G	10577	NPC2	Likely benign	2086689980	RCV002120702;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951297	74951297	74951297	-
NM_006432.5(NPC2):c.191-8T>C	10577	NPC2	Conflicting interpretations of pathogenicity	1404077821	RCV000732566\|RCV001505967;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951298	74951298	NC_000014.8:g.74951298A>G	-
NM_006432.5(NPC2):c.191-10T>C	10577	NPC2	Likely benign	907643924	RCV001403004;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951300	74951300	74951300	-
NM_006432.5(NPC2):c.191-14T>C	10577	NPC2	Likely benign	-1	RCV002833138;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74951304	74951304	NC_000014.8:g.74951304A>G	-
NM_006432.5(NPC2):c.190+17C>G	10577	NPC2	Likely benign	572299295	RCV002083154;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953015	74953015	74953015	-
NM_006432.5(NPC2):c.190+14G>A	10577	NPC2	Benign/Likely benign	189666920	RCV000248498\|RCV000371703\|RCV001519265\|RCV001528642;	N	MedGen:CN169374\|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MedGen:C3661900	14	74953018	74953018	14:g.74953018C>T	ClinGen:CA7268180	C0220756 Niemann-Pick disease, type C;
NM_006432.5(NPC2):c.190+6dup	10577	NPC2	Likely benign	770729278	RCV002095435;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953025	74953026	74953025	-
NM_006432.5(NPC2):c.190+5G>A	10577	NPC2	Conflicting interpretations of pathogenicity	80358268	RCV000009000;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953027	74953027	14:g.74953027C>T	ClinGen:CA340790,OMIM:601015.0003	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.190+4C>T	10577	NPC2	Uncertain significance	776980208	RCV001877945;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953028	74953028	74953028	-
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)	10577	NPC2	Likely pathogenic	-1	RCV002309152;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953037	74953038	74953036	-
NM_006432.5(NPC2):c.183C>T (p.Phe61=)	10577	NPC2	Likely benign	768296377	RCV001465640;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953039	74953039	74953039	-
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)	10577	NPC2	Uncertain significance	774036281	RCV001039143;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953053	74953053	14:g.74953053C>T	-
NM_006432.5(NPC2):c.168C>T (p.Ser56=)	10577	NPC2	Conflicting interpretations of pathogenicity	761208847	RCV000593331\|RCV001460030\|RCV002413680;	N	MedGen:CN517202\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74953054	74953054	14:g.74953054G>A	ClinGen:CA7268187	CN169374 not specified;
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)	10577	NPC2	Uncertain significance	2086712268	RCV001278150;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953057	74953057	14:g.74953057G>A	-
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter)	10577	NPC2	Pathogenic	2086712268	RCV001963172;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953057	74953057	74953057	-
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)	10577	NPC2	Uncertain significance	-1	RCV002829491;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953061	74953061	NC_000014.8:g.74953061G>C	-
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro)	10577	NPC2	Uncertain significance	767080399	RCV001906649;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953062	74953062	74953062	-
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)	10577	NPC2	Pathogenic	2086712337	RCV001170047;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953065	74953065	14:g.74953065G>A	-
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)	10577	NPC2	Likely pathogenic	-1	RCV002309360;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953068	74953068	74953068	-
NM_006432.5(NPC2):c.150C>T (p.Ser50=)	10577	NPC2	Likely benign	2086712392	RCV001453433;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953072	74953072	74953072	-
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)	10577	NPC2	Likely pathogenic	-1	RCV002310526;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953073	74953074	74953072	-
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)	10577	NPC2	Uncertain significance	-1	RCV003088869;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953076	74953076	NC_000014.8:g.74953076A>G	-
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)	10577	NPC2	Likely pathogenic	2086712538	RCV001263851;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953080	74953080	14:g.74953080G>A	-
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)	10577	NPC2	Pathogenic	80358263	RCV000020644\|RCV002513144;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74953081	74953081	14:g.74953081G>T	ClinGen:CA342108	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe)	10577	NPC2	Uncertain significance	1555345993	RCV000664587;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953082	74953082	14:g.74953082C>A	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)	10577	NPC2	Pathogenic/Likely pathogenic	80358262	RCV000020643\|RCV001193595;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74953089	74953089	14:g.74953089G>A	ClinGen:CA342106	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.132C>A (p.Thr44=)	10577	NPC2	Likely benign	-1	RCV003018435;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953090	74953090		-
NM_006432.5(NPC2):c.129C>T (p.Pro43=)	10577	NPC2	Likely benign	760668431	RCV002113645;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953093	74953093	74953093	-
NM_006432.5(NPC2):c.120C>T (p.Ser40=)	10577	NPC2	Uncertain significance	-1	RCV003017075;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953102	74953102		-
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)	10577	NPC2	Likely pathogenic	-1	RCV003333265;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953104	74953105		-
NM_006432.5(NPC2):c.115G>A (p.Val39Met)	10577	NPC2	Uncertain significance	80358261	RCV000009004\|RCV003407307;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|	14	74953107	74953107	14:g.74953107C>T	ClinGen:CA340794,UniProtKB:P61916#VAR_015848,OMIM:601015.0007	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter)	10577	NPC2	Pathogenic	2139670174	RCV001970052;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953116	74953116	74953116	-
NM_006432.5(NPC2):c.91del (p.Asp31fs)	10577	NPC2	Likely pathogenic	-1	RCV002308421;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953131	74953131	74953130	-
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys)	10577	NPC2	Uncertain significance	753010998	RCV001909621;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953136	74953136	74953136	-
NM_006432.5(NPC2):c.83-4G>A	10577	NPC2	Likely benign	758359849	RCV001447724;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953143	74953143	74953143	-
NM_006432.5(NPC2):c.83-5T>C	10577	NPC2	Likely benign	-1	RCV002716268;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953144	74953144	NC_000014.8:g.74953144A>G	-
NM_006432.5(NPC2):c.83-8T>G	10577	NPC2	Likely benign	-1	RCV003026795;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953147	74953147	NC_000014.8:g.74953147A>C	-
NM_006432.5(NPC2):c.83-15A>G	10577	NPC2	Likely benign	1405062063	RCV002090678;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953154	74953154	74953154	-
NM_006432.5(NPC2):c.83-19A>G	10577	NPC2	Likely benign	2139670208	RCV001872164;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74953158	74953158	74953158	-
NM_006432.5(NPC2):c.82+15C>G	10577	NPC2	Likely benign	1261259335	RCV002075517;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959881	74959881	74959881	-
NM_006432.5(NPC2):c.82+15C>A	10577	NPC2	Likely benign	-1	RCV002619668;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959881	74959881	NC_000014.8:g.74959881G>T	-
NM_006432.5(NPC2):c.82+15C>T	10577	NPC2	Likely benign	-1	RCV002589700;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959881	74959881	NC_000014.8:g.74959881G>A	-
NC_000014.8:g.(?_74959886)_(74959987_?)del	10577	NPC2	Pathogenic	-1	RCV001387710;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959886	74959987	-1	-
NM_006432.5(NPC2):c.82+6dup	10577	NPC2	Likely benign	2139676497	RCV001478856;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959886	74959887	74959886	-
NM_006432.5(NPC2):c.82+10A>C	10577	NPC2	Likely benign	-1	RCV002829116;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959886	74959886	NC_000014.8:g.74959886T>G	-
NM_006432.5(NPC2):c.82+9C>T	10577	NPC2	Likely benign	553819330	RCV002219076;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959887	74959887	74959887	-
NM_006432.5(NPC2):c.82+8C>G	10577	NPC2	Likely benign	-1	RCV002671156;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959888	74959888	NC_000014.8:g.74959888G>C	-
NM_006432.5(NPC2):c.82+7C>T	10577	NPC2	Likely benign	771418765	RCV002104431;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959889	74959889	74959889	-
NM_006432.5(NPC2):c.82+6C>T	10577	NPC2	Uncertain significance	1450006465	RCV001981046;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959890	74959890	74959890	-
NM_006432.5(NPC2):c.82+2T>C	10577	NPC2	Pathogenic	879253740	RCV000234869;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959894	74959894	NC_000014.8:g.74959894A>G	ClinGen:CA10584016,OMIM:601015.0008	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.79dup (p.Cys27fs)	10577	NPC2	Pathogenic	767899043	RCV000796954;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959898	74959899	14:g.74959898_74959899insA	-
NM_006432.5(NPC2):c.69G>A (p.Gln23=)	10577	NPC2	Likely benign	760160779	RCV002110985;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959909	74959909	74959909	-
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)	10577	NPC2	Likely pathogenic	-1	RCV003337786;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959911	74959911		-
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)	10577	NPC2	Likely pathogenic	-1	RCV002308281;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959913	74959914	74959913	-
NM_006432.5(NPC2):c.63G>A (p.Pro21=)	10577	NPC2	Likely benign	1299194959	RCV002092804;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959915	74959915	74959915	-
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)	10577	NPC2	Uncertain significance	-1	RCV003083950;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959916	74959916	NC_000014.8:g.74959916G>T	-
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	10577	NPC2	Pathogenic	80358260	RCV000008998\|RCV000586093;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74959920	74959920	14:g.74959920C>A	ClinGen:CA340788,OMIM:601015.0001	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)	10577	NPC2	Uncertain significance	80358260	RCV001278151;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959920	74959920	14:g.74959920C>T	-
NM_006432.5(NPC2):c.57C>T (p.Ala19=)	10577	NPC2	Likely benign	752818745	RCV000964527;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959921	74959921	14:g.74959921G>A	-
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)	10577	NPC2	Uncertain significance	369392502	RCV001115296\|RCV001239530;	N	MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220, Orphanet:646\|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959922	74959922	14:g.74959922G>T	-
NM_006432.5(NPC2):c.54G>A (p.Gln18=)	10577	NPC2	Likely benign	-1	RCV002761671;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959924	74959924		-
NM_006432.5(NPC2):c.51C>A (p.Ala17=)	10577	NPC2	Likely benign	1260452199	RCV001466516;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959927	74959927	74959927	-
NM_006432.5(NPC2):c.45C>A (p.Thr15=)	10577	NPC2	Likely benign	1025180543	RCV001398388;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959933	74959933	74959933	-
NM_006432.5(NPC2):c.39C>G (p.Leu13=)	10577	NPC2	Likely benign	-1	RCV002880788;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959939	74959939		-
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro)	10577	NPC2	Uncertain significance	147602717	RCV002015465;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959940	74959940	74959940	-
NM_006432.5(NPC2):c.30C>T (p.Leu10=)	10577	NPC2	Likely benign	142190691	RCV002154252\|RCV002325684;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MeSH:D030342,MedGen:C0950123	14	74959948	74959948	74959948	-
NM_006432.5(NPC2):c.27del (p.Leu10fs)	10577	NPC2	Pathogenic	80358267	RCV000020645;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959951	74959951	14:g.74959951_74959951del	ClinGen:CA342110,OMIM:601015.0005	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.27G>C (p.Leu9=)	10577	NPC2	Likely benign	1362951124	RCV002201878;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959951	74959951	74959951	-
NM_006432.5(NPC2):c.27G>A (p.Leu9=)	10577	NPC2	Likely benign	1362951124	RCV002204984;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959951	74959951	74959951	-
NM_006432.5(NPC2):c.25C>T (p.Leu9=)	10577	NPC2	Likely benign	1033995785	RCV001477841;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959953	74959953	74959953	-
NM_006432.5(NPC2):c.21A>G (p.Thr7=)	10577	NPC2	Likely benign	150211005	RCV001400751;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959957	74959957	74959957	-
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)	10577	NPC2	Uncertain significance	-1	RCV002766147;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959965	74959965	NC_000014.8:g.74959965C>T	-
NM_006432.5(NPC2):c.12G>A (p.Leu4=)	10577	NPC2	Uncertain significance	2139676633	RCV002051204;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959966	74959966	74959966	-
NM_006432.5(NPC2):c.10C>T (p.Leu4=)	10577	NPC2	Likely benign	-1	RCV002594359;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959968	74959968		-
NM_006432.5(NPC2):c.9C>T (p.Phe3=)	10577	NPC2	Likely benign	1300524708	RCV001396485;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959969	74959969	74959969	-
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)	10577	NPC2	Likely pathogenic	483352893	RCV000119339\|RCV003330496;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646\|MONDO:MONDO:0018982,MedGen:C0220756, Orphanet:646	14	74959975	74959975	14:g.74959975C>G	ClinGen:CA269836	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)	10577	NPC2	Likely pathogenic	483352893	RCV000673729;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959975	74959975	14:g.74959975C>T	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)	10577	NPC2	Pathogenic	-1	RCV002613296;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959975	74959975	NC_000014.8:g.74959975C>A	-
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)	10577	NPC2	Likely pathogenic	1555346368	RCV000668937;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959976	74959976	14:g.74959976A>G	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)	10577	NPC2	Pathogenic	-1	RCV003009852;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959976	74959976	NC_000014.8:g.74959976A>C	-
NM_006432.5(NPC2):c.1A>G (p.Met1Val)	10577	NPC2	Likely pathogenic	1555346369	RCV000670039;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959977	74959977	14:g.74959977T>C	-	C1843366 607625 Niemann-Pick disease type C2;
NM_006432.5(NPC2):c.-1G>C	10577	NPC2	Uncertain significance	756433737	RCV001278152;	N	MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625, Orphanet:646	14	74959978	74959978	14:g.74959978C>G	-

MSeqDR Portal

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