Full data view for gene NPC1

Information The variants shown are described using the NM_000271.4 transcript reference sequence.

286 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-22A>C r.(?) p.(=) Unknown - benign g.21166329T>G g.23586365T>G NPC1(NM_000271.4):c.-22A>C - NPC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-22A>C r.(?) p.(=) Unknown - benign g.21166329T>G g.23586365T>G NPC1(NM_000271.4):c.-22A>C - NPC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.57+4A>G r.spl? p.? Paternal (inferred) - pathogenic g.21166247T>C g.23586283T>C - - NPC1_000004 - - - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - NPC-1 - ATX42 - F no France - - 0 - - 1 Claire Guissart
-?/. - c.66A>G r.(?) p.(Ser22=) Unknown - likely benign g.21153530T>C g.23573566T>C NPC1(NM_000271.4):c.66A>G (p.S22=) - NPC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.66A>G r.(?) p.(Ser22=) Unknown - likely benign g.21153530T>C g.23573566T>C NPC1(NM_000271.4):c.66A>G (p.S22=) - NPC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66A>G r.(?) p.(Ser22=) Unknown - likely benign g.21153530T>C g.23573566T>C NPC1(NM_000271.4):c.66A>G (p.S22=) - NPC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101C>T r.(?) p.(Ala34Val) Unknown - - g.21153495G>A - NPC1(NM_000271.4):c.101C>T (p.A34V) - chr18_002475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>A r.(?) p.(Glu43Lys) Unknown - likely benign g.21153469C>T g.23573505C>T NPC1(NM_000271.4):c.127G>A (p.E43K) - NPC1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160dup r.(?) p.(Asp54Glyfs*4) Maternal (confirmed) - pathogenic g.21153437dup g.23573473dup 160_161insG - NPC1_000103 - - - - Germline - - - 0 - DNA SEQ Blood - NPC-1 Case 2 Kawazoe T, submitted - F no Japan - 28y 0 - Miglustat 2 Tomoya Kawazoe
+/. - c.160dup r.(?) p.(Asp54Glyfs*4) Maternal (confirmed) - pathogenic g.21153437dup g.23573473dup 160_161insG - NPC1_000103 - - - - Germline - - - 0 - DNA SEQ Blood - NPC-1 Case 3 Kawazoe T, submitted - F no Japan - 35y 0 - Miglustat 1 Tomoya Kawazoe
?/. - c.180G>T r.(?) p.(Gln60His) Unknown - VUS g.21153416C>A g.23573452C>A NPC1(NM_000271.4):c.180G>T (p.Q60H) - NPC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.180G>T r.(?) p.(Gln60His) Unknown - VUS g.21153416C>A g.23573452C>A NPC1(NM_000271.4):c.180G>T (p.Q60H) - NPC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181-88A>G r.(=) p.(=) Unknown - likely benign g.21152232T>C g.23572268T>C NPC1(NM_000271.4):c.181-88A>G - NPC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.275A>G r.(?) p.(Gln92Arg) Unknown - likely pathogenic g.21152050T>C g.23572086T>C NPC1(NM_000271.4):c.275A>G (p.(Gln92Arg), p.Q92R) - NPC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.275A>G r.(?) p.(Gln92Arg) Unknown - - g.21152050T>C - NPC1(NM_000271.4):c.275A>G (p.(Gln92Arg), p.Q92R) - NPC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288-44A>T r.(=) p.(=) Unknown - likely benign g.21149006T>A g.23569042T>A NPC1(NM_000271.4):c.288-44A>T - NPC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.306T>G r.(?) p.(Tyr102Ter) Unknown - pathogenic g.21148944A>C g.23568980A>C NPC1(NM_000271.4):c.306T>G (p.Y102*) - NPC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.352_353del r.(?) p.(Gln119Valfs*8) Maternal (confirmed) - pathogenic g.21148899_21148900del g.23568935_23568936del 352_353delAG - NPC1_000003 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPC-1 - ATX42 - F no France - - 0 - - 1 Claire Guissart
+/. - c.352_353del r.(?) p.(Gln119ValfsTer8) Unknown - pathogenic g.21148899_21148900del g.23568935_23568936del NPC1(NM_000271.4):c.352_353delAG (p.Q119Vfs*8) - NPC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.387T>C r.(?) p.(Tyr129=) Unknown - benign g.21148863A>G g.23568899A>G NPC1(NM_000271.4):c.387T>C (p.Y129=) - NPC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.387T>C r.(?) p.(Tyr129=) Unknown - benign g.21148863A>G g.23568899A>G NPC1(NM_000271.4):c.387T>C (p.Y129=) - NPC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.387T>C r.(?) p.(Tyr129=) Unknown - benign g.21148863A>G g.23568899A>G NPC1(NM_000271.4):c.387T>C (p.Y129=) - NPC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.387T>C r.(?) p.(Tyr129=) Unknown - benign g.21148863A>G g.23568899A>G NPC1(NM_000271.4):c.387T>C (p.Y129=) - NPC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388G>A r.(?) p.(Val130Ile) Unknown - likely benign g.21148862C>T g.23568898C>T NPC1(NM_000271.4):c.388G>A (p.V130I) - NPC1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - VUS g.21148805C>T g.23568841C>T NPC1(NM_000271.4):c.445G>A (p.G149R) - NPC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - VUS g.21148805C>T g.23568841C>T NPC1(NM_000271.4):c.445G>A (p.G149R) - NPC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.463+19A>G r.(=) p.(=) Unknown - likely benign g.21148768T>C g.23568804T>C NPC1(NM_000271.4):c.463+19A>G - NPC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.463+19A>G r.(=) p.(=) Unknown - likely benign g.21148768T>C g.23568804T>C NPC1(NM_000271.4):c.463+19A>G - NPC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Tyr157=) Unknown - likely benign g.21141484G>A g.23561520G>A NPC1(NM_000271.4):c.471C>T (p.Y157=) - NPC1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494C>A r.(?) p.(Ala165Asp) Paternal (confirmed) - VUS g.21141461G>T g.23561497G>T - - NPC1_000105 - Papuc et al., submitted - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ-NG-I blood WES EE 72440 - - M no Eritrea - - 0 - - 1 Anaïs Begemann
+?/. - c.494C>A r.(?) p.(Ala165Asp) Unknown - likely pathogenic g.21141461G>T g.23561497G>T NPC1(NM_000271.4):c.494C>A (p.A165D) - NPC1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Asp180=) Unknown - likely benign g.21141415G>A g.23561451G>A NPC1(NM_000271.4):c.540C>T (p.D180=) - NPC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.540C>T r.(?) p.(Asp180=) Unknown - benign g.21141415G>A g.23561451G>A NPC1(NM_000271.4):c.540C>T (p.D180=) - NPC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.541G>A r.(?) p.(Ala181Thr) Unknown - VUS g.21141414C>T g.23561450C>T NPC1(NM_000271.4):c.541G>A (p.A181T) - NPC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.547G>A r.(?) p.(Ala183Thr) Unknown - likely benign g.21141408C>T g.23561444C>T NPC1(NM_000271.4):c.547G>A (p.A183T) - NPC1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547G>A r.(?) p.(Ala183Thr) Unknown - VUS g.21141408C>T g.23561444C>T NPC1(NM_000271.4):c.547G>A (p.A183T) - NPC1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Thr204=) Unknown - likely benign g.21141343G>A g.23561379G>A NPC1(NM_000271.4):c.612C>T (p.T204=) - NPC1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Thr204=) Unknown - likely benign g.21141343G>A g.23561379G>A NPC1(NM_000271.4):c.612C>T (p.T204=) - NPC1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Thr204=) Unknown - likely benign g.21141343G>A g.23561379G>A NPC1(NM_000271.4):c.612C>T (p.T204=) - NPC1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631G>T r.(?) p.(Asp211Tyr) Unknown - VUS g.21141324C>A g.23561360C>A NPC1(NM_000271.4):c.631G>T (p.D211Y) - NPC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.644A>G r.(?) p.(His215Arg) Unknown - benign g.21140432T>C g.23560468T>C NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.644A>G r.(?) p.(His215Arg) Unknown - benign g.21140432T>C g.23560468T>C NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.644A>G r.(?) p.(His215Arg) Unknown - benign g.21140432T>C g.23560468T>C NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.644A>G r.(?) p.(His215Arg) Unknown - benign g.21140432T>C g.23560468T>C NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.644A>G r.(?) p.(His215Arg) Unknown - benign g.21140432T>C g.23560468T>C NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.665A>G r.(?) p.(Asn222Ser) Unknown - VUS g.21140411T>C g.23560447T>C - - NPC1_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 6 c.665A>G r.(?) p.(Asn222Ser) Unknown - VUS g.21140411T>C g.23560447T>C - - NPC1_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.665A>G r.(?) p.(Asn222Ser) Unknown - likely benign g.21140411T>C g.23560447T>C NPC1(NM_000271.4):c.665A>G (p.N222S) - NPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.665A>G r.(?) p.(Asn222Ser) Unknown - likely benign g.21140411T>C g.23560447T>C NPC1(NM_000271.4):c.665A>G (p.N222S) - NPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.665A>G r.(?) p.(Asn222Ser) Unknown - VUS g.21140411T>C g.23560447T>C NPC1(NM_000271.4):c.665A>G (p.N222S) - NPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665A>G r.(?) p.(Asn222Ser) Unknown - VUS g.21140411T>C g.23560447T>C NPC1(NM_000271.4):c.665A>G (p.N222S) - NPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Ala223Val) Unknown - VUS g.21140408G>A g.23560444G>A NPC1(NM_000271.4):c.668C>T (p.A223V) - NPC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.709C>T r.(?) p.(Pro237Ser) Unknown - benign g.21140367G>A g.23560403G>A NPC1(NM_000271.4):c.709C>T (p.P237S, p.(Pro237Ser)) - NPC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.709C>T r.(?) p.(Pro237Ser) Unknown - benign g.21140367G>A g.23560403G>A NPC1(NM_000271.4):c.709C>T (p.P237S, p.(Pro237Ser)) - NPC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.709C>T r.(?) p.(Pro237Ser) Unknown - benign g.21140367G>A g.23560403G>A NPC1(NM_000271.4):c.709C>T (p.P237S, p.(Pro237Ser)) - NPC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.709C>T r.(?) p.(Pro237Ser) Unknown - likely benign g.21140367G>A g.23560403G>A NPC1(NM_000271.4):c.709C>T (p.P237S, p.(Pro237Ser)) - NPC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775C>A r.(?) p.(Pro259Thr) Unknown - VUS g.21140301G>T g.23560337G>T NPC1(NM_000271.4):c.775C>A (p.P259T) - NPC1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.805T>C r.(?) p.(Tyr269His) Unknown - VUS g.21140271A>G g.23560307A>G NPC1(NM_000271.4):c.805T>C (p.Y269H) - NPC1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.882-28A>G r.882_955del p.Lys295Argfs* Maternal (confirmed) - pathogenic g.21137182T>C g.23557218T>C - - NPC1_000012 branchpoint variant PubMed: Di Leo 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPC-1 15459971 PubMed: Di Leo 2004 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Italy - - 0 - - 2 Johan den Dunnen
-?/. - c.956-7C>T r.(=) p.(=) Unknown - likely benign g.21136584G>A g.23556620G>A NPC1(NM_000271.4):c.956-7C>T - NPC1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.959A>G r.(?) p.(Glu320Gly) Unknown - VUS g.21136574T>C g.23556610T>C NPC1(NM_000271.4):c.959A>G (p.E320G) - NPC1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.966C>T r.(?) p.(Ser322=) Unknown - likely benign g.21136567G>A g.23556603G>A NPC1(NM_000271.4):c.966C>T (p.S322=) - NPC1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.966C>T r.(?) p.(Ser322=) Unknown - benign g.21136567G>A g.23556603G>A NPC1(NM_000271.4):c.966C>T (p.S322=) - NPC1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011G>T r.(?) p.(Arg337=) Unknown - likely benign g.21136522C>A g.23556558C>A NPC1(NM_000271.4):c.1011G>T (p.R337=) - NPC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1011G>T r.(?) p.(Arg337=) Unknown - benign g.21136522C>A g.23556558C>A NPC1(NM_000271.4):c.1011G>T (p.R337=) - NPC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011G>T r.(?) p.(Arg337=) Unknown - likely benign g.21136522C>A g.23556558C>A NPC1(NM_000271.4):c.1011G>T (p.R337=) - NPC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1071G>A r.(?) p.(Ser357=) Unknown - benign g.21136462C>T g.23556498C>T NPC1(NM_000271.4):c.1071G>A (p.S357=) - NPC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1071G>A r.(?) p.(Ser357=) Unknown - likely benign g.21136462C>T g.23556498C>T NPC1(NM_000271.4):c.1071G>A (p.S357=) - NPC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117G>A r.(?) p.(Val373Ile) Unknown - likely benign g.21136416C>T g.23556452C>T NPC1(NM_000271.4):c.1117G>A (p.V373I) - NPC1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1156A>G r.(?) p.(Ser386Gly) Unknown - pathogenic g.21136377T>C g.23556413T>C - - NPC1_000005 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPC-1 - ATX498 - F no France - - 0 - - 1 Claire Guissart
+?/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - likely pathogenic g.21136322C>T g.23556358C>T NPC1(NM_000271.4):c.1211G>A (p.R404Q) - NPC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1232G>A r.(?) p.(Arg411Gln) Unknown - likely benign g.21136301C>T g.23556337C>T NPC1(NM_000271.4):c.1232G>A (p.R411Q) - NPC1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1274C>T r.(?) p.(Ser425Leu) Unknown - VUS g.21136259G>A g.23556295G>A NPC1(NM_000271.4):c.1274C>T (p.S425L) - NPC1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - benign g.21136233G>A g.23556269G>A NPC1(NM_000271.4):c.1300C>T (p.P434S) - NPC1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - benign g.21136233G>A g.23556269G>A NPC1(NM_000271.4):c.1300C>T (p.P434S) - NPC1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(Pro434=) Unknown - likely benign g.21136231C>T g.23556267C>T NPC1(NM_000271.4):c.1302G>A (p.P434=) - NPC1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1326+72C>T r.(=) p.(=) Unknown - benign g.21136135G>A g.23556171G>A NPC1(NM_000271.4):c.1326+72C>T - NPC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1480G>A r.(?) p.(Val494Met) Unknown - likely benign g.21134795C>T g.23554831C>T NPC1(NM_000271.4):c.1480G>A (p.V494M) - NPC1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503C>T r.(?) p.(Asp501=) Unknown - likely benign g.21134772G>A g.23554808G>A NPC1(NM_000271.4):c.1503C>T (p.D501=) - NPC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1503C>T r.(?) p.(Asp501=) Unknown - likely benign g.21134772G>A g.23554808G>A NPC1(NM_000271.4):c.1503C>T (p.D501=) - NPC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1532C>T r.(?) p.(Thr511Met) Unknown - benign g.21134743G>A g.23554779G>A NPC1(NM_000271.4):c.1532C>T (p.T511M) - NPC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1532C>T r.(?) p.(Thr511Met) Unknown - likely benign g.21134743G>A g.23554779G>A NPC1(NM_000271.4):c.1532C>T (p.T511M) - NPC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1532C>T r.(?) p.(Thr511Met) Parent #1 - benign g.21134743G>A g.23554779G>A - - NPC1_000075 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs13381670 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1552C>T r.(?) p.(Arg518Trp) Unknown - VUS g.21134723G>A g.23554759G>A NPC1(NM_000271.4):c.1552C>T (p.R518W) - NPC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1553G>A r.(?) p.(Arg518Gln) Unknown - likely pathogenic g.21134722C>T g.23554758C>T - - NPC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1553+18A>G r.(=) p.(=) Unknown - likely benign g.21134704T>C g.23554740T>C NPC1(NM_000271.4):c.1553+18A>G - NPC1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1574A>T r.(?) p.(Asp525Val) Unknown - likely pathogenic g.21131671T>A g.23551707T>A NPC1(NM_000271.4):c.1574A>T (p.D525V) - NPC1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1581T>A r.(?) p.(Ser527Arg) Unknown - likely benign g.21131664A>T g.23551700A>T NPC1(NM_000271.4):c.1581T>A (p.(Ser527Arg)) - NPC1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1628C>T r.(?) p.(Pro543Leu) Unknown - pathogenic g.21131617G>A g.23551653G>A NPC1(NM_000271.4):c.1628C>T (p.P543L) - NPC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1654+5G>A r.spl? p.? Unknown - VUS g.21131586C>T g.23551622C>T - - NPC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1858G>A r.(?) p.(Asp620Asn) Unknown - VUS g.21125013C>T g.23545049C>T NPC1(NM_000271.4):c.1858G>A (p.D620N) - NPC1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1892T>G r.(?) p.(Met631Arg) Parent #1 - pathogenic g.21124979A>C g.23545015A>C - - NPC1_000006 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPC-1 - ATX498 - F no France - - 0 - - 1 Claire Guissart
-?/. - c.1899A>G r.(?) p.(Leu633=) Unknown - likely benign g.21124972T>C g.23545008T>C NPC1(NM_000271.4):c.1899A>G (p.L633=) - NPC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1918G>A r.(?) p.(Gly640Arg) Unknown - likely pathogenic g.21124953C>T g.23544989C>T NPC1(NM_000271.4):c.1918G>A (p.G640R) - NPC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1918G>A r.(?) p.(Gly640Arg) Unknown - pathogenic g.21124953C>T g.23544989C>T NPC1(NM_000271.4):c.1918G>A (p.G640R) - NPC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1926G>A r.1926g>a p.Met642Ile Maternal (confirmed) - benign g.21124945C>T g.23544981C>T - - NPC1_000008 - PubMed: Di Leo 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPC-1 15459971 PubMed: Di Leo 2004 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Italy - - 0 - - 2 Johan den Dunnen
-/. - c.1926G>C r.(?) p.(Met642Ile) Unknown - benign g.21124945C>G g.23544981C>G NPC1(NM_000271.4):c.1926G>C (p.M642I) - NPC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1926G>C r.(?) p.(Met642Ile) Unknown - benign g.21124945C>G g.23544981C>G NPC1(NM_000271.4):c.1926G>C (p.M642I) - NPC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1926G>C r.(?) p.(Met642Ile) Unknown - benign g.21124945C>G g.23544981C>G NPC1(NM_000271.4):c.1926G>C (p.M642I) - NPC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1926G>C r.(?) p.(Met642Ile) Unknown - benign g.21124945C>G g.23544981C>G NPC1(NM_000271.4):c.1926G>C (p.M642I) - NPC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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