Total 69 pathogenic variants reported for Niemann-Pick disease, type C2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) SNV
Germline		 Chr14:74493217 Pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340788 rs_80358260

12 SubmittersRCV000008998RCV000586093RCV004018603RCV006456606
NM_006432.5(NPC2):c.190+5G>A SNV
Germline		 Chr14:74486324 Pathogenic/Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Multiple Submitters
No Conflicts
 CA340790 rs_80358268

8 SubmittersRCV000009000
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) SNV
Germline		 Chr14:74484426 Pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340791 rs_80358266

8 SubmittersRCV000009001RCV001193596
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) SNV
Germline		 Chr14:74484579 Pathogenic Niemann-Pick disease, type C2 No Assertion Criteria Provided
 CA340793 rs_11694

2 SubmittersRCV000009003
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) SNV
Germline		 Chr14:74480707 Pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C		 Criteria Provided
Single Submitter
 CA254412 rs_104894457

3 SubmittersRCV000009006RCV002468967
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) SNV
Germline		 Chr14:74484420 Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C1
Niemann-Pick disease, type C		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254414 rs_104894458

6 SubmittersRCV000009007RCV001528117RCV005406732
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) SNV
Germline		 Chr14:74486386 Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342106 rs_80358262

5 SubmittersRCV000020643RCV001193595
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) SNV
Germline		 Chr14:74486378 Pathogenic Niemann-Pick disease, type C2
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342108 rs_80358263

5 SubmittersRCV000020644RCV002513144
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) SNV
Germline		 Chr14:74484483 Pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342111 rs_80358264

3 SubmittersRCV000020646RCV003398552
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) SNV
Germline		 Chr14:74493272 Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
Niemann-Pick disease, type C		 Criteria Provided
Multiple Submitters
No Conflicts
 CA269836 rs_483352893

3 SubmittersRCV000119339RCV003330496
NM_006432.5(NPC2):c.82+2T>C SNV
Germline		 Chr14:74493191 Pathogenic Niemann-Pick disease, type C2 No Assertion Criteria Provided
 CA10584016 rs_879253740

2 SubmittersRCV000234869
NM_006432.5(NPC2):c.450T>C (p.His150=) SNV
Germline		 Chr14:74480280 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2
Inborn genetic diseases
NPC2-related disorder		 Criteria Provided
Conflicting Classifications
 CA7268085 rs_374489111

5 SubmittersRCV000382282RCV001085986RCV002338827RCV003909934
NM_006432.5(NPC2):c.270T>C (p.Pro90=) SNV
Germline		 Chr14:74484508 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7268156 rs_758503440

4 SubmittersRCV000295328RCV001414410RCV002436117
NM_006432.5(NPC2):c.453C>G (p.Leu151=) SNV
Germline		 Chr14:74480277 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2		 Criteria Provided
Conflicting Classifications
 CA7268083 rs_766378122

2 SubmittersRCV000385115RCV001859664
NM_006432.5(NPC2):c.363+7G>A SNV
Germline		 Chr14:74484408 Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7268143 rs_200463204

8 SubmittersRCV000375313RCV000611646RCV000593664RCV001579721
NM_006432.5(NPC2):c.264T>C (p.Pro88=) SNV
Germline		 Chr14:74484514 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2
NPC2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA263660929 rs_1011669605

4 SubmittersRCV000592569RCV001472552RCV003945383RCV004649217
NM_006432.5(NPC2):c.168C>T (p.Ser56=) SNV
Germline		 Chr14:74486351 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7268187 rs_761208847

3 SubmittersRCV000593331RCV001460030RCV002413680
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) SNV
Germline		 Chr14:74480721 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390531676 rs_1555345616

2 SubmittersRCV000668992
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) SNV
Unknown		 Chr14:74493273 Likely pathogenic Niemann-Pick disease, type C2 No Assertion Criteria Provided
 CA390377014 rs_1555346368

1 SubmittersRCV000668937
NM_006432.5(NPC2):c.364-2A>G SNV
Germline		 Chr14:74480781 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA7268132 rs_777654308

2 SubmittersRCV000665605
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) SNV
Germline		 Chr14:74493272 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390377010 rs_483352893

2 SubmittersRCV000673729
NM_006432.5(NPC2):c.1A>G (p.Met1Val) SNV
Unknown		 Chr14:74493274 Likely pathogenic Niemann-Pick disease, type C2 No Assertion Criteria Provided
 CA390377022 rs_1555346369

1 SubmittersRCV000670039
NM_006432.5(NPC2):c.191-8T>C SNV
Germline		 Chr14:74484595 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2		 Criteria Provided
Conflicting Classifications
 CA615195089 rs_1404077821

2 SubmittersRCV000732566RCV001505967
NM_006432.5(NPC2):c.240C>T (p.Gly80=) SNV
Germline		 Chr14:74484538 Conflicting classifications of pathogenicity Condition: not provided
Niemann-Pick disease, type C2		 Criteria Provided
Conflicting Classifications
 CA7268160 rs_773836291

3 SubmittersRCV000734821RCV001578732
NM_006432.5(NPC2):c.273T>C (p.Asp91=) SNV
Germline		 Chr14:74484505 Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7268154 rs_151071820

6 SubmittersRCV000887835RCV001115295RCV001531810RCV003307667
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) SNV
Unknown		 Chr14:74486362 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532698 rs_2086712337

1 SubmittersRCV001170047
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) SNV
Unknown		 Chr14:74484421 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532244 rs_2086687086

1 SubmittersRCV001263847
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) SNV
Unknown		 Chr14:74484444 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532293 rs_2086687425

1 SubmittersRCV001263848
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) SNV
Unknown		 Chr14:74484474 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532368 rs_2086687862

1 SubmittersRCV001263849
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) SNV
Unknown		 Chr14:74484481 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532385 rs_2086687936

1 SubmittersRCV001263850
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) SNV
Unknown		 Chr14:74486377 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532732 rs_2086712538

1 SubmittersRCV001263851
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) SNV
Germline		 Chr14:74484500 Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
not specified		 Criteria Provided
Conflicting Classifications
 CA7268153 rs_143960270

3 SubmittersRCV001580747RCV005237922
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) SNV
Germline		 Chr14:74484481 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532384 rs_2086687936

1 SubmittersRCV001806310
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) SNV
Germline		 Chr14:74486413 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532813 rs_2139670174

1 SubmittersRCV001970052
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) SNV
Germline		 Chr14:74486354 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532680 rs_2086712268

1 SubmittersRCV001963172
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu) SNV
Germline		 Chr18:23541388 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA401793756 rs_773765255

1 SubmittersRCV002291523
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter) SNV
Unknown		 Chr14:74486365 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532704 rs_2506107168

1 SubmittersRCV002309360
NM_006432.5(NPC2):c.3G>T (p.Met1Ile) SNV
Germline		 Chr14:74493272 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA7268220 rs_483352893

1 SubmittersRCV002613296
NM_006432.5(NPC2):c.2T>G (p.Met1Arg) SNV
Germline		 Chr14:74493273 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390377012 rs_1555346368

1 SubmittersRCV003009852
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter) SNV
Germline		 Chr14:74493208 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390376662 rs_2506115406

1 SubmittersRCV003337786
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr) SNV
Germline		 Chr14:74484420 Conflicting classifications of pathogenicity Niemann-Pick disease, type C2 Criteria Provided
Conflicting Classifications
 CA390532242 rs_104894458

2 SubmittersRCV003338128
NM_006432.5(NPC2):c.363+1G>A SNV
Germline		 Chr14:74484414 Likely pathogenic Niemann-Pick disease, type C2
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA390532232 rs_2086686955

2 SubmittersRCV003486330RCV005931257
NM_006432.5(NPC2):c.191-1G>A SNV
Germline		 Chr14:74484588 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532613 rs_2506104683

1 SubmittersRCV003511027
NM_006432.5(NPC2):c.190+1G>C SNV
Germline		 Chr14:74486328 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390532622 rs_2506107051

1 SubmittersRCV003620768
NM_006432.5(NPC2):c.2T>A (p.Met1Lys) SNV
Germline		 Chr14:74493273 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter
 CA390377017 rs_1555346368

1 SubmittersRCV003621234
NM_006432.5(NPC2):c.202A>T (p.Lys68Ter) SNV
Germline		 Chr14:74484576 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter

1 SubmittersRCV005007291
NM_006432.5(NPC2):c.83-2A>T SNV
Germline		 Chr14:74486438 Likely pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter

1 SubmittersRCV005007293
NM_006432.5(NPC2):c.406C>T (p.Gln136Ter) SNV
Germline		 Chr14:74480737 Pathogenic Niemann-Pick disease, type C2 Criteria Provided
Single Submitter

1 SubmittersRCV005646807