Full data view for gene NPC2

Information The variants shown are described using the NM_006432.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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.-1588G>T r.(?) p.(=) Unknown - VUS g.74961565C>A - ISCA2(NM_194279.4):c.327C>A (p.D109E) - NPC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1055C>T r.(?) p.(=) Unknown - likely pathogenic g.74961032G>A g.74494329G>A - - ISCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1022C>T r.(?) p.(=) Unknown - VUS g.74960999G>A - ISCA2(NM_194279.3):c.196G>A (p.G66R) - NPC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-867T>G r.(?) p.(=) Unknown - likely benign g.74960844A>C g.74494141A>C ISCA2(NM_194279.3):c.163A>C (p.S55R) - NPC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-813C>T r.(?) p.(=) Unknown - likely benign g.74960790G>A - ISCA2(NM_194279.3):c.109G>A (p.E37K) - NPC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-574T>A r.(?) p.(=) Unknown - likely pathogenic g.74960551A>T g.74493848A>T - - NPC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-544C>G r.(?) p.(=) Unknown - likely benign g.74960521G>C - ISCA2(NM_194279.3):c.44G>C (p.R15T) - NPC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>Y r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.74959977T>R g.74493274T>R M1L - NPC2_000042 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP20 PubMed: Fancello 2009 - - - Italy - 4m - - - 1 Johan den Dunnen
+/. 1 c.27del r.(?) p.(Leu10SerfsTer25) Parent #2 - pathogenic (recessive) g.74959951del g.74493248del 27delG - NPC2_000041 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat2 (88082) PubMed: Milat 2001 - F no France - 6m - - - 1 Johan den Dunnen
?/. - c.56C>A r.(?) p.(Ala19Asp) Unknown - VUS g.74959922G>T g.74493219G>T NPC2(NM_006432.4):c.56C>A (p.A19D) - NPC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.58G>T r.(?) p.(Glu20Ter) Unknown - pathogenic g.74959920C>A g.74493217C>A NPC2(NM_006432.4):c.58G>T (p.E20*) - NPC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A E20X - NPC2_000016 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP34 PubMed: Fancello 2009 - - - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A E20X - NPC2_000016 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP34sib PubMed: Fancello 2009 - - - Italy - 10m - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.0 p.0 Both (homozygous) - pathogenic (recessive) g.74959920C>A - G>T E20X - NPC2_000016 no protein detectable PubMed: Naureckiene 2000, PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat3 (88057/NIH99.04) PubMed: Naureckiene 2000, PubMed: Milat 2001 - F no Italy - 00y06m - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.0 p.0 Parent #1 - pathogenic (recessive) g.74959920C>A - G>T E20X - NPC2_000016 - PubMed: Naureckiene 2000 - - Germline - - - - - DNA SEQ - - NP NPC293.10 PubMed: Naureckiene 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A G58T - NPC2_000016 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat1 (20082) PubMed: Milat 2001 - F no France - 6m - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Parent #1 - pathogenic (recessive) g.74959920C>A g.74493217C>A G58T - NPC2_000016 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat2 (88082) PubMed: Milat 2001 - F no France - 6m - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A G58T - NPC2_000016 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat5 (89095) PubMed: Milat 2001 - M yes Algeria - 19m - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A G58T - NPC2_000016 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat6 (96059) PubMed: Milat 2001 - F no Czech Republic - 4y - - - 1 Johan den Dunnen
+/. - c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A E20X - NPC2_000016 - PubMed: Verot 2007 - - Germline - - - - - DNA SEQ - - NP 89021 PubMed: Verot 2007 family, 2 affected sisters F - Italy - 03y06m - - - 2 Johan den Dunnen
+/. - c.58G>T r.(?) p.(Glu20Ter) Both (homozygous) - pathogenic (recessive) g.74959920C>A g.74493217C>A E20X - NPC2_000016 - PubMed: Verot 2007 - - Germline - - - - - DNA SEQ - - NP 22073 PubMed: Verot 2007 family, 2 affected brothers M - Italy - 00y15m - - - 2 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Parent #1 - pathogenic (recessive) g.74959920C>A g.74493217C>A - - NPC2_000016 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.58G>T r.(?) p.(Glu20Ter) Parent #2 - pathogenic (recessive) g.74959920C>A g.74493217C>A - - NPC2_000016 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 1i c.82+2T>C r.[82_83ins[gc;82+3_82+22;82+210_82+244];82_83ins[gc;82+3_82+22],64_82del] p.0 Both (homozygous) - pathogenic (recessive) g.74959894A>G g.74493191A>G IVS1+2 t>c - NPC2_000031 no detectable protein PubMed: Verot 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - NP 25131 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents F yes Sri Lanka - 1y - - - 1 Johan den Dunnen
+/. 1i c.82+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.74959894A>G g.74493191A>G IVS1+2T>C - NPC2_000031 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 1i_3i c.(82+1_83-1)_(363+1_364-1)del r.(83_363del) p.? Both (homozygous) - pathogenic (recessive) g.(74947483_74951117)_(74953140_74959895)del g.(74480780_74484414)_(74486437_74493192)del del ex2-3 - NPC2_000028 - PubMed: Hebbar 2016 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - WES NP patient PubMed: Hebbar 2016 2-generation family, 1 affected, unaffected heterozygous parents F no India Asia - - - - 1 Johan den Dunnen
?/. 2 c.88G>A r.(?) p.(Val30Met) Unknown - VUS g.74953134C>T g.74486431C>T - - NPC2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 2 c.88G>A r.(?) p.(Val30Met) Unknown - VUS g.74953134C>T g.74486431C>T - - NPC2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.88G>A r.(?) p.(Val30Met) Both (homozygous) - pathogenic (recessive) g.74953134C>T g.74486431C>T - - NPC2_000001 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG0672 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.88G>A r.(?) p.(Val30Met) Unknown - likely benign g.74953134C>T g.74486431C>T NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M) - NPC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Val30Met) Unknown - likely benign g.74953134C>T g.74486431C>T NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M) - NPC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Val30Met) Unknown - likely benign g.74953134C>T g.74486431C>T NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M) - NPC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.88G>A r.(?) p.(Val30Met) Parent #1 - VUS g.74953134C>T g.74486431C>T - - NPC2_000001 unknown variant 2nd chromosome PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.115G>A r.(?) p.(Val39Met) Both (homozygous) - pathogenic (recessive) g.74953107C>T g.74486404C>T - - NPC2_000030 - PubMed: Klunemann 2002 - - Germline yes - - - - DNA SEQ - - NP FamPat2.2/3 PubMed: Klunemann 2002 3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F - Canada French-Canadian;Germany;Ireland - - - - 2 Johan den Dunnen
+/. 2 c.115G>A r.(?) p.(Val39Met) Both (homozygous) - pathogenic (recessive) g.74953107C>T g.74486404C>T - - NPC2_000030 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.133C>T r.(?) p.(Gln45*) Both (homozygous) - pathogenic (recessive) g.74953089G>A - C172T - NPC2_000032 - PubMed: Varnier 2004 - - Germline - - - - - DNA SEQ - - NP 91088 PubMed: Varnier 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.133C>T r.(?) p.(Gln45*) Both (homozygous) - pathogenic (recessive) g.74953089G>A - - - NPC2_000032 - PubMed: Chikh 2005 - - Germline - - - - - DNA SEQ - - NP Pat5 PubMed: Chikh 2005 - - yes Italy - - - - - 1 Johan den Dunnen
+/. 2 c.140G>T r.(?) p.(Cys47Phe) Parent #1 - pathogenic (recessive) g.74953082C>A g.74486379C>A - - NPC2_000040 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.141C>A r.(?) p.(Cys47*) Both (homozygous) - pathogenic (recessive) g.74953081G>T - C141A - NPC2_000033 - PubMed: Varnier 2004 - - Germline - - - - - DNA SEQ - - NP 23140 PubMed: Varnier 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.141C>A r.(?) p.(Cys47*) Both (homozygous) - pathogenic (recessive) g.74953081G>T - - - NPC2_000033 - PubMed: Chikh 2005 - - Germline - - - - - DNA SEQ - - NP Pat6 PubMed: Chikh 2005 2-generation family, 1 affected, unaffected heterozygous parents - - Sri Lanka - - - - - 1 Johan den Dunnen
+/. - c.165C>G r.(?) p.(Tyr55Ter) Both (homozygous) - pathogenic (recessive) g.74953057G>C g.74486354G>C Y55X - NPC2_000039 - PubMed: Verot 2007 - - Germline - - - - - DNA SEQ - - NP 24060 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents M yes Pakistan - 8m - - - 1 Johan den Dunnen
-?/. - c.168C>T r.(?) p.(Ser56=) Unknown - likely benign g.74953054G>A - NPC2(NM_006432.4):c.168C>T (p.S56=) - NPC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.190+1G>C r.spl? p.? Unknown - likely pathogenic g.74953031C>G - - - NPC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.190+5G>A r.[115_190del,83_190del,190_191insgugcauaaaa,=] p.[Gly28fs,Asn64fs,=] Both (homozygous) - pathogenic (recessive) g.74953027C>T g.74486324C>T IVS2+5G>A - NPC2_000038 - PubMed: Milat 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - NP Pat8 (82017/NIH94.85b) PubMed: Milat 2001 - F yes Algeria - >21y - - - 1 Johan den Dunnen
-?/. - c.190+14G>A r.(=) p.(=) Unknown - likely benign g.74953018C>T g.74486315C>T NPC2(NM_006432.5):c.190+14G>A - NPC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190+14G>A r.(=) p.(=) Unknown - likely benign g.74953018C>T g.74486315C>T NPC2(NM_006432.5):c.190+14G>A - NPC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191-8dup r.(=) p.(=) Unknown - likely benign g.74951304dup g.74484601dup NPC2(NM_001363688.1):c.191-8dupT - NPC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199T>C r.(?) p.(Ser67Pro) Unknown - pathogenic g.74951282A>G g.74484579A>G NPC2(NM_006432.4):c.199T>C (p.S67P) - NPC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.199T>C r.(?) p.(Ser67Pro) Both (homozygous) - pathogenic (recessive) g.74951282A>G g.74484579A>G T199C - NPC2_000007 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat7 (21033) PubMed: Milat 2001 - F yes Turkey - >20m - - - 1 Johan den Dunnen
?/. - c.212A>G r.(?) p.(Lys71Arg) Unknown - VUS g.74951269T>C g.74484566T>C NPC2(NM_006432.5):c.212A>G (p.K71R) - NPC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229A>T r.(?) p.(Ile77Phe) Unknown - likely benign g.74951252T>A - NPC2(NM_006432.3):c.229A>T (p.(Ile77Phe)) - NPC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.278G>T r.(?) p.(Cys93Phe) Both (homozygous) ACMG pathogenic g.74951203C>A g.74484500C>A - - NPC2_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - NPC2 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 3 c.278G>T r.(?) p.(Cys93Phe) Both (homozygous) - pathogenic (recessive) g.74951203C>A g.74484500C>A - - NPC2_000002 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.292A>C r.(?) p.(Asn98His) Unknown - likely benign g.74951189T>G g.74484486T>G NPC2(NM_006432.4):c.292A>C (p.N98H), NPC2(NM_006432.5):c.292A>C (p.N98H) - NPC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.292A>C r.(?) p.(Asn98His) Unknown - likely benign g.74951189T>G g.74484486T>G NPC2(NM_006432.4):c.292A>C (p.N98H), NPC2(NM_006432.5):c.292A>C (p.N98H) - NPC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - pathogenic (recessive) g.74951186A>G - T295C - NPC2_000034 - PubMed: Varnier 2004 - - Germline - - - - - DNA SEQ - - NP 99058 PubMed: Varnier 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - pathogenic (recessive) g.74951186A>G - - - NPC2_000034 - PubMed: Chikh 2005 - - Germline yes - - - - DNA SEQ - - NP Pat7 PubMed: Chikh 2005 2-generation family, 3 affected, unaffected heterozygous parents - yes Morocco - - - - - 3 Johan den Dunnen
+/. - c.313_314del r.(?) p.(Lys105AspfsTer3) Unknown - pathogenic g.74951167_74951168del g.74484464_74484465del NPC2(NM_006432.4):c.313_314delAA (p.K105Dfs*3) - NPC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.332del r.(?) p.(Asn111Ilefs*5) Parent #2 - pathogenic (recessive) g.74951150del g.74484447del 331delA - NPC2_000029 - PubMed: Naureckiene 2000 - - Germline - - - - - DNA SEQ - - NP NPC293.10 PubMed: Naureckiene 2000 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.332del r.(?) p.(Asn111IlefsTer5) Parent #2 - pathogenic (recessive) g.74951150del g.74484447del 331delA - NPC2_000029 - PubMed: Park 2003 - - Germline - - - - - DNA SEQ - - NP - PubMed: Park 2003 - - - - - - - - - 1 Johan den Dunnen
?/. - c.333T>G r.(?) p.(Asn111Lys) Unknown - VUS g.74951148A>C g.74484445A>C NPC2(NM_006432.4):c.333T>G (p.N111K) - NPC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.352G>T r.(?) p.(Glu118Ter) Both (homozygous) - pathogenic (recessive) g.74951129C>A g.74484426C>A G352T - NPC2_000037 - PubMed: Milat 2001 - - Germline - - - - - DNA SEQ - - NP Pat4 (93104) PubMed: Milat 2001 - F yes Germany - 7m - - - 1 Johan den Dunnen
+/. - c.358C>T r.(?) p.(Pro120Ser) Both (homozygous) - pathogenic (recessive) g.74951123G>A g.74484420G>A P120S - NPC2_000036 - PubMed: Verot 2007 - - Germline - - - - - DNA SEQ - - NP 24084 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents - yes Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.358C>T r.(?) p.(Pro120Ser) Both (homozygous) - pathogenic (recessive) g.74951123G>A g.74484420G>A - - NPC2_000036 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 24084 PubMed: Millat 2005 - - - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.363+7G>A r.(=) p.(=) Unknown - likely benign g.74951111C>T g.74484408C>T NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A - NPC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363+7G>A r.(=) p.(=) Unknown - likely benign g.74951111C>T g.74484408C>T NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A - NPC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363+7G>A r.(=) p.(=) Unknown - likely benign g.74951111C>T g.74484408C>T NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A - NPC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.363+117_363+118insCAG r.(=) p.(=) Unknown - benign g.74951002_74951003insGCT g.74484299_74484300insGCT NPC2(NM_006432.4):c.363+117_363+118insCAG - NPC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436C>T r.(?) p.(Gln146Ter) Both (homozygous) - pathogenic (recessive) g.74947410G>A g.74480707G>A Q146X - NPC2_000035 - PubMed: Verot 2007 - - Germline - - - - - DNA SEQ - - NP 25046 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents M yes Algeria - - - - - 1 Johan den Dunnen
+/. 4 c.436C>T r.(?) p.(Gln146Ter) Both (homozygous) - pathogenic (recessive) g.74947410G>A g.74480707G>A - - NPC2_000035 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 25046 PubMed: Millat 2005 - - - Algeria - - - - - 1 Johan den Dunnen
-?/. - c.441+1G>A r.spl? p.? Unknown - likely benign g.74947404C>T g.74480701C>T NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A - NPC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+1G>A r.spl? p.? Unknown - VUS g.74947404C>T g.74480701C>T NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A - NPC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+1G>A r.spl? p.? Unknown - VUS g.74947404C>T g.74480701C>T NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A - NPC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+1G>A r.spl? p.? Unknown - VUS g.74947404C>T g.74480701C>T NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A - NPC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+1G>A r.spl? p.? Parent #1 - VUS g.74947404C>T g.74480701C>T - - NPC2_000005 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140130028 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
+/. - c.441+1G>A r.spl p.? Parent #1 - pathogenic g.74947404C>T g.74480701C>T - - NPC2_000005 no variant 2nd chromosome PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat12 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.441+2dup r.spl? p.? Unknown - VUS g.74947403dup g.74480700dup - - NPC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441+3A>G r.spl? p.? Unknown - likely benign g.74947402T>C - NPC2(NM_006432.5):c.441+3A>G - NPC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+30G>A r.(=) p.(=) Unknown - VUS g.74947375C>T - NPC2(NM_001363688.1):c.471G>A (p.(Trp157*)) - NPC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442-4A>C r.spl? p.? Unknown - likely benign g.74946995T>G g.74480292T>G NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C - NPC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.442-4A>C r.spl? p.? Unknown - benign g.74946995T>G g.74480292T>G NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C - NPC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442-4A>C r.spl? p.? Unknown - likely benign g.74946995T>G - NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C - NPC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9T>C r.(=) p.(=) Unknown - likely benign g.74946968A>G g.74480265A>G NPC2(NM_006432.5):c.*9T>C - NPC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*9T>C r.(=) p.(=) Unknown - benign g.74946968A>G g.74480265A>G NPC2(NM_006432.5):c.*9T>C - NPC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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