Unique variants in gene NPC1

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

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 2 - c.-22A>C benign r.(?) p.(=) g.21166329T>G - NPC1(NM_000271.4):c.-22A>C - NPC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 1i c.57+4A>G - r.spl? p.? g.21166247T>C g.23586283T>C - - NPC1_000004 - - - - Germline yes - - - - Claire Guissart
-?/. 2 - c.66A>G likely benign r.(?) p.(=) g.21153530T>C - NPC1(NM_000271.4):c.66A>G (p.S22=) - NPC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.127G>A likely benign r.(?) p.(Glu43Lys) g.21153469C>T - NPC1(NM_000271.4):c.127G>A (p.E43K) - chr18_002486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.160dup - r.(?) p.(Asp54Glyfs*4) g.21153436dup - 160_161insG - NPC1_000103 - - - - Germline - - - - - Tomoya Kawazoe
?/. 1 - c.180G>T VUS r.(?) p.(Gln60His) g.21153416C>A - NPC1(NM_000271.4):c.180G>T (p.Q60H) - NPC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.181-88A>G likely benign r.(=) p.(=) g.21152232T>C - NPC1(NM_000271.4):c.181-88A>G - NPC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.275A>G likely pathogenic r.(?) p.(Gln92Arg) g.21152050T>C - NPC1(NM_000271.4):c.275A>G (p.Q92R) - NPC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.288-44A>T likely benign r.(=) p.(=) g.21149006T>A - NPC1(NM_000271.4):c.288-44A>T - NPC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.306T>G pathogenic r.(?) p.(Tyr102*) g.21148944A>C - NPC1(NM_000271.4):c.306T>G (p.Y102*) - NPC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 4 c.352_353del pathogenic r.(?) p.(Gln119Valfs*8) g.21148899_21148900del, g.21148897_21148898del g.23568933_23568934del NPC1(NM_000271.4):c.352_353delAG (p.Q119Vfs*8), 352_353delAG - NPC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Claire Guissart
-/. 4 - c.387T>C benign r.(?) p.(=) g.21148863A>G - NPC1(NM_000271.4):c.387T>C (p.Y129=) - NPC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.388G>A likely benign r.(?) p.(Val130Ile) g.21148862C>T - NPC1(NM_000271.4):c.388G>A (p.V130I) - NPC1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.445G>A VUS r.(?) p.(Gly149Arg) g.21148805C>T - NPC1(NM_000271.4):c.445G>A (p.G149R) - NPC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.463+19A>G likely benign r.(=) p.(=) g.21148768T>C - NPC1(NM_000271.4):c.463+19A>G - NPC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.471C>T likely benign r.(?) p.(=) g.21141484G>A - NPC1(NM_000271.4):c.471C>T (p.Y157=) - NPC1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +?/. 2 - c.494C>A likely pathogenic r.(?) p.(Ala165Asp) g.21141461G>T - NPC1(NM_000271.4):c.494C>A (p.A165D) - NPC1_000105 VKGL data sharing initiative Nederland Papuc et al., submitted - - Germline, CLASSIFICATION record - - - - - Anaïs Begemann, VKGL-NL
-/., -?/. 2 - c.540C>T benign, likely benign r.(?) p.(=) g.21141415G>A - NPC1(NM_000271.4):c.540C>T (p.D180=) - NPC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.541G>A VUS r.(?) p.(Ala181Thr) g.21141414C>T - NPC1(NM_000271.4):c.541G>A (p.A181T) - NPC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.547G>A VUS, likely benign r.(?) p.(Ala183Thr) g.21141408C>T - NPC1(NM_000271.4):c.547G>A (p.A183T) - NPC1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 3 - c.612C>T likely benign r.(?) p.(=) g.21141343G>A - NPC1(NM_000271.4):c.612C>T (p.T204=) - NPC1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.631G>T VUS r.(?) p.(Asp211Tyr) g.21141324C>A - NPC1(NM_000271.4):c.631G>T (p.D211Y) - NPC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 5 - c.644A>G benign r.(?) p.(His215Arg) g.21140432T>C - NPC1(NM_000271.4):c.644A>G (p.H215R) - NPC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/., ?/. 6 6 c.665A>G likely benign, VUS r.(?) p.(Asn222Ser) g.21140411T>C g.23560447T>C NPC1(NM_000271.4):c.665A>G (p.N222S) - NPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.668C>T VUS r.(?) p.(Ala223Val) g.21140408G>A - NPC1(NM_000271.4):c.668C>T (p.A223V) - NPC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 4 - c.709C>T benign, likely benign r.(?) p.(Pro237Ser) g.21140367G>A - NPC1(NM_000271.4):c.709C>T (p.P237S, p.(Pro237Ser)) - NPC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.775C>A VUS r.(?) p.(Pro259Thr) g.21140301G>T - NPC1(NM_000271.4):c.775C>A (p.P259T) - NPC1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.805T>C VUS r.(?) p.(Tyr269His) g.21140271A>G - NPC1(NM_000271.4):c.805T>C (p.Y269H) - NPC1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6i c.882-28A>G - r.882_955del p.Lys295Argfs* g.21137182T>C g.23557218T>C - - NPC1_000012 branchpoint variant PubMed: Di Leo 2004 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.956-7C>T likely benign r.(=) p.(=) g.21136584G>A - NPC1(NM_000271.4):c.956-7C>T - NPC1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.959A>G VUS r.(?) p.(Glu320Gly) g.21136574T>C - NPC1(NM_000271.4):c.959A>G (p.E320G) - NPC1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.966C>T benign, likely benign r.(?) p.(=) g.21136567G>A - NPC1(NM_000271.4):c.966C>T (p.S322=) - NPC1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-?/., -/. 3 - c.1011G>T likely benign, benign r.(?) p.(=) g.21136522C>A - NPC1(NM_000271.4):c.1011G>T (p.R337=) - NPC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 2 - c.1071G>A benign, likely benign r.(?) p.(=) g.21136462C>T - NPC1(NM_000271.4):c.1071G>A (p.S357=) - NPC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1117G>A likely benign r.(?) p.(Val373Ile) g.21136416C>T - NPC1(NM_000271.4):c.1117G>A (p.V373I) - NPC1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 8 c.1156A>G - r.(?) p.(Ser386Gly) g.21136377T>C g.23556413T>C - - NPC1_000005 - - - - Germline - - - - - Claire Guissart
+?/. 1 - c.1211G>A likely pathogenic r.(?) p.(Arg404Gln) g.21136322C>T - NPC1(NM_000271.4):c.1211G>A (p.R404Q) - NPC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1232G>A likely benign r.(?) p.(Arg411Gln) g.21136301C>T - NPC1(NM_000271.4):c.1232G>A (p.R411Q) - NPC1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1274C>T VUS r.(?) p.(Ser425Leu) g.21136259G>A - NPC1(NM_000271.4):c.1274C>T (p.S425L) - NPC1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1300C>T benign r.(?) p.(Pro434Ser) g.21136233G>A - NPC1(NM_000271.4):c.1300C>T (p.P434S) - NPC1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1302G>A likely benign r.(?) p.(=) g.21136231C>T - NPC1(NM_000271.4):c.1302G>A (p.P434=) - NPC1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1326+72C>T benign r.(=) p.(=) g.21136135G>A - NPC1(NM_000271.4):c.1326+72C>T - NPC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1480G>A likely benign r.(?) p.(Val494Met) g.21134795C>T - NPC1(NM_000271.4):c.1480G>A (p.V494M) - NPC1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1503C>T likely benign r.(?) p.(=) g.21134772G>A - NPC1(NM_000271.4):c.1503C>T (p.D501=) - NPC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/., -?/. 2 - c.1532C>T benign, likely benign r.(?) p.(Thr511Met) g.21134743G>A - NPC1(NM_000271.4):c.1532C>T (p.T511M) - NPC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.1552C>T VUS r.(?) p.(Arg518Trp) g.21134723G>A - NPC1(NM_000271.4):c.1552C>T (p.R518W) - NPC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1553G>A likely pathogenic r.(?) p.(Arg518Gln) g.21134722C>T - - - NPC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1553+18A>G likely benign r.(=) p.(=) g.21134704T>C - NPC1(NM_000271.4):c.1553+18A>G - NPC1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1574A>T likely pathogenic r.(?) p.(Asp525Val) g.21131671T>A - NPC1(NM_000271.4):c.1574A>T (p.D525V) - NPC1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1581T>A likely benign r.(?) p.(Ser527Arg) g.21131664A>T - NPC1(NM_000271.4):c.1581T>A (p.(Ser527Arg)) - NPC1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1628C>T pathogenic r.(?) p.(Pro543Leu) g.21131617G>A - NPC1(NM_000271.4):c.1628C>T (p.P543L) - NPC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1654+5G>A VUS r.spl? p.? g.21131586C>T - - - NPC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1858G>A VUS r.(?) p.(Asp620Asn) g.21125013C>T - NPC1(NM_000271.4):c.1858G>A (p.D620N) - NPC1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 12 c.1892T>G - r.(?) p.(Met631Arg) g.21124979A>C g.23545015A>C - - NPC1_000006 - - - - Germline - - - - - Claire Guissart
-?/. 1 - c.1899A>G likely benign r.(?) p.(=) g.21124972T>C - NPC1(NM_000271.4):c.1899A>G (p.L633=) - NPC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 2 - c.1918G>A likely pathogenic, pathogenic r.(?) p.(Gly640Arg) g.21124953C>T - NPC1(NM_000271.4):c.1918G>A (p.G640R) - NPC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
-/. 1 12 c.1926G>A - r.1926g>a p.Met642Ile g.21124945C>T g.23544981C>T - - NPC1_000008 - PubMed: Di Leo 2004 - - Germline - - - - - Johan den Dunnen
-/., ?/. 5 - c.1926G>C benign, VUS r.(?) p.(Met642Ile) g.21124945C>G - NPC1(NM_000271.4):c.1926G>C (p.M642I) - NPC1_000069 VKGL data sharing initiative Nederland - - rs1788799 CLASSIFICATION record, Germline yes - - - - VKGL-NL_AMC, Xiang Jiao, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen
-?/. 1 - c.1937G>A likely benign r.(?) p.(Arg646His) g.21124934C>T - NPC1(NM_000271.4):c.1937G>A (p.R646H) - NPC1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+7_1947+8insCG likely benign r.(=) p.(=) g.21124916_21124917insCG - NPC1(NM_000271.4):c.1947+7_1947+8insCG - NPC1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1947+7_1947+8insCGGG likely benign r.(=) p.(=) g.21124916_21124917insCCCG - NPC1(NM_000271.4):c.1947+7_1947+8insCGGG, NPC1(NM_000271.4):c.1947+7_1947+8insCGGG (p.(=)) - NPC1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.1947+7_1947+8insCGGGG likely benign r.(=) p.(=) g.21124916_21124917insCCCCG - NPC1(NM_000271.4):c.1947+7_1947+8insCGGGG - NPC1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+8G>C likely benign r.(=) p.(=) g.21124916C>G - NPC1(NM_000271.4):c.1947+8G>C - NPC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.1947+10G>A benign, likely benign r.(=) p.(=) g.21124914C>T - NPC1(NM_000271.4):c.1947+10G>A - NPC1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 3 - c.1947+10G>C benign, likely benign r.(=) p.(=) g.21124914C>G - NPC1(NM_000271.4):c.1947+10G>C - NPC1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.1947+11_1947+12insTGGG benign r.(=) p.(=) g.21124915_21124916insACCC - NPC1(NM_000271.4):c.1947+11_1947+12insTGGG - NPC1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1947+12_1947+16dup likely benign r.(=) p.(=) g.21124912_21124916dup - NPC1(NM_000271.4):c.1947+12_1947+16dupGGGGG - NPC1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.1947+13_1947+14insC likely benign r.(=) p.(=) g.21124910_21124911insG - NPC1(NM_000271.4):c.1947+13_1947+14insC - chr18_002677 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 4 - c.1947+13_1947+16dup likely benign, benign r.(=) p.(=) g.21124913_21124916dup - NPC1(NM_000271.4):c.1947+13_1947+16dupGGGG - NPC1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/., -?/. 3 - c.1947+14G>T benign, likely benign r.(=) p.(=) g.21124910C>A - NPC1(NM_000271.4):c.1947+14G>T - NPC1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.1947+14_1947+15insC benign r.(=) p.(=) g.21124909_21124910insG - NPC1(NM_000271.4):c.1947+14_1947+15insC - NPC1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+14_1947+15insTGG likely benign r.(=) p.(=) g.21124911_21124912insACC - NPC1(NM_000271.4):c.1947+14_1947+15insTGG - NPC1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 4 - c.1947+14_1947+16dup benign, likely benign r.(=) p.(=) g.21124914_21124916dup - NPC1(NM_000271.4):c.1947+14_1947+16dupGGG, NPC1(NM_000271.4):c.1947+7_1947+8insGGG - NPC1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/., -/. 3 - c.1947+15_1947+16dup likely benign, benign r.(=) p.(=) g.21124915_21124916dup - NPC1(NM_000271.4):c.1947+14_1947+15dupGG, NPC1(NM_000271.4):c.1947+15_1947+16dupGG - NPC1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.1947+15_1947+16insCG likely benign r.(=) p.(=) g.21124909_21124910insGC - NPC1(NM_000271.4):c.1947+15_1947+16insCG - NPC1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+15_1947+16insTG likely benign r.(=) p.(=) g.21124909_21124910insAC - NPC1(NM_000271.4):c.1947+15_1947+16insTG - NPC1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1947+16del benign r.(=) p.(=) g.21124916del - NPC1(NM_000271.4):c.1947+16delG - NPC1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-?/., -/. 4 - c.1947+16dup likely benign, benign r.(=) p.(=) g.21124916dup - NPC1(NM_000271.4):c.1947+16dupG - NPC1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1947+16_1947+17insAGGGG likely benign r.(=) p.(=) g.21124911_21124912insTCCCC - NPC1(NM_000271.4):c.1947+16_1947+17insAGGGG - chr18_002678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+16_1947+17insGGAGG likely benign r.(=) p.(=) g.21124909_21124910insTCCCC - NPC1(NM_000271.4):c.1947+14delGinsGGGGGA - NPC1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+16_1947+17insGGGGGGGGGG likely benign r.(=) p.(=) g.21124916_21124917insCCCCCCCCCC - NPC1(NM_000271.4):c.1947+16_1947+17insGGGGGGGGGG - NPC1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.1947+17T>G likely benign r.(=) p.(=) g.21124907A>C - NPC1(NM_000271.4):c.1947+17T>G - NPC1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1947+19_1947+20insGGGG likely benign r.(=) p.(=) g.21124906_21124907insCCCC - NPC1(NM_000271.4):c.1947+19_1947+20insGGGG - NPC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1947+19_1947+20insGGGGG likely benign r.(=) p.(=) g.21124906_21124907insCCCCC - NPC1(NM_000271.4):c.1947+19_1947+20insGGGGG - NPC1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1955C>T VUS r.(?) p.(Ser652Leu) g.21124483G>A - NPC1(NM_000271.4):c.1955C>T (p.S652L) - chr18_002485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2072C>T pathogenic r.(?) p.(Pro691Leu) g.21124366G>A - NPC1(NM_000271.4):c.2072C>T (p.P691L) - NPC1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.2073G>A likely benign r.(?) p.(=) g.21124365C>T - NPC1(NM_000271.4):c.2073G>A (p.P691=) - NPC1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.2088T>C likely benign r.(?) p.(=) g.21124350A>G - NPC1(NM_000271.4):c.2088T>C (p.A696=) - chr18_002484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2096T>C VUS r.(?) p.(Val699Ala) g.21124342A>G - NPC1(NM_000271.4):c.2096T>C (p.V699A) - NPC1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2131-6_2131-4del likely benign r.spl? p.? g.21123552_21123554del - NPC1(NM_000271.4):c.2131-6_2131-4delTTT - NPC1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.2131-5_2131-4del benign, likely benign r.spl? p.? g.21123553_21123554del - NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT - NPC1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 2 - c.2131-4del benign r.spl? p.? g.21123554del - NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT - NPC1_000045, NPC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
-/., -?/. 2 - c.2131-4dup benign, likely benign r.spl? p.? g.21123554dup - NPC1(NM_000271.4):c.2131-4dupT - NPC1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.2268C>T likely benign r.(?) p.(=) g.21121375G>A - NPC1(NM_000271.4):c.2268C>T (p.A756=) - NPC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2373+11G>A likely benign r.(=) p.(=) g.21121259C>T - NPC1(NM_000271.4):c.2373+11G>A - NPC1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2428G>A VUS r.(?) p.(Val810Ile) g.21121118C>T - NPC1(NM_000271.4):c.2428G>A (p.V810I) - NPC1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 3 - c.2474A>G pathogenic, VUS r.(?) p.(Tyr825Cys) g.21121072T>C - NPC1(NM_000271.4):c.2474A>G (p.Y825C) - NPC1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.2495A>G VUS r.(?) p.(Asp832Gly) g.21121051T>C - - - chr18_002483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.2514+6C>T benign, likely benign r.(=) p.(=) g.21121026G>A - NPC1(NM_000271.4):c.2514+6C>T - NPC1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/. 6 17 c.2572A>G benign r.(?), r.2572a>g p.(Ile858Val), p.Ile858Val g.21120444T>C g.23540480T>C NPC1(NM_000271.4):c.2572A>G (p.I858V) - NPC1_000009 VKGL data sharing initiative Nederland PubMed: Di Leo 2004 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen, Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
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