Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555631571
rs1555631571
NPC1
1.000 0.160 18 23533354 splice donor variant C/A;G;T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 3 1999 2016
dbSNP: rs774943545
rs774943545
NPC1
0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 2 1999 2010
dbSNP: rs774943545
rs774943545
NPC1
0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 1999 2010
dbSNP: rs1064794009
rs1064794009
NPC1
1.000 0.160 18 23533374 frameshift variant AG/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 1999 2014
dbSNP: rs1555631610
rs1555631610
NPC1
1.000 0.160 18 23533437 frameshift variant GAATATC/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs786200878
rs786200878
NPC1
1.000 0.160 18 23533447 frameshift variant A/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs120074131
rs120074131
NPC1
0.925 0.160 18 23533470 missense variant C/G;T snv 8.0E-06
CUI: C4017106
Disease: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM 		0.700 0
dbSNP: rs753419933
rs753419933
NPC1
1.000 0.160 18 23533475 missense variant C/A snv 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 3 2005 2014
dbSNP: rs758902805
rs758902805
NPC1
0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 8 2000 2014
dbSNP: rs758902805
rs758902805
NPC1
0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 3 2000 2014
dbSNP: rs786200879
rs786200879
NPC1
1.000 0.160 18 23533495 frameshift variant AAGT/-;AAGTAAGT delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555631642
rs1555631642
NPC1
1.000 0.160 18 23533496 frameshift variant TA/C delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 2003 2012
dbSNP: rs1555631653
rs1555631653
NPC1
1.000 0.160 18 23533518 splice acceptor variant C/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555631888
rs1555631888
NPC1
1.000 0.160 18 23534444 splice donor variant A/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs786200877
rs786200877
NPC1
1.000 0.160 18 23534445 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 3 2001 2013
dbSNP: rs369098773
rs369098773
NPC1
1.000 0.160 18 23534471 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 5 1997 2016
dbSNP: rs758231839
rs758231839
NPC1
1.000 0.160 18 23534475 frameshift variant C/- delins 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 2009 2017
dbSNP: rs113371321
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs200444084
rs200444084
NPC1
1.000 0.160 18 23534480 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 2010 2014
dbSNP: rs1555631957
rs1555631957
NPC1
1.000 0.160 18 23534499 frameshift variant TCAT/AAA delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555631982
rs1555631982
NPC1
1.000 0.160 18 23534519 frameshift variant -/T delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555631998
rs1555631998
NPC1
1.000 0.160 18 23534534 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs748862167
rs748862167
NPC1
1.000 0.160 18 23534544 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 6 2001 2015
dbSNP: rs28942105
rs28942105
NPC1
1.000 0.160 18 23535479 missense variant T/A;C snv 2.0E-05 1.4E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs1555632182
rs1555632182
NPC1
1.000 0.160 18 23535485 stop gained A/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2006 2006