Full data view for gene NOP56

Information The variants shown are described using the NM_006392.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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DNA change (hg38)     

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+/. 1i c.3+71_4-85GGCCTG[(1250)] GGCCTG[(1250)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(1250)] g.2652734_2652757GGCCTG[(1250)] - - NOP56_000023 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam10 PubMed: Garcia-Murias 2012 family, several affected M - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2000)] GGCCTG[(2000)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(2000)] g.2652734_2652757GGCCTG[(2000)] - - NOP56_000009 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam5 PubMed: Garcia-Murias 2012 family, several affected M - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2000)] GGCCTG[(2000)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(2000)] g.2652734_2652757GGCCTG[(2000)] - - NOP56_000009 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam6 PubMed: Garcia-Murias 2012 family, several affected M - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2000)] GGCCTG[(2000)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(2000)] g.2652734_2652757GGCCTG[(2000)] - - NOP56_000009 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam9 PubMed: Garcia-Murias 2012 family, several affected F - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2500)] GGCCTG[(2500)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(2500)] g.2652734_2652757GGCCTG[(2500)] - - NOP56_000021 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam4 PubMed: Garcia-Murias 2012 family, several affected M - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(650_2000)] GGCCTG[(650_2000)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(650_2000)] g.2652734_2652757GGCCTG[(650_2000)] - - NOP56_000019 repeat size shows instability and anticipation PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam1 PubMed: Garcia-Murias 2012 6-generation family, 7 affected F;M - Spain Galicia - - - - 7 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(830_1170)] GGCCTG[(830_1170)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(830_1170)] g.2652734_2652757GGCCTG[(830_1170)] - - NOP56_000020 repeat size shows instability and anticipation PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam2 PubMed: Garcia-Murias 2012 6-generation family, 3 affected F;M - Spain Galicia - - - - 3 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(833)] GGCCTG[(833)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(833)] g.2652734_2652757GGCCTG[(833)] - - NOP56_000022 - PubMed: Garcia-Murias 2012 - - Germline yes - - - - DNA PCR, SEQ, Southern - - SCA Fam7 PubMed: Garcia-Murias 2012 family, several affected M - Spain Galicia - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(1200_?)] GGCCTG[(1200_?)] r.? p.? Parent #1 - pathogenic (dominant) g.2633380_2633403GGCCTG[(1200_?)] g.2652734_2652757GGCCTG[(1200_?)] - - NOP56_000017 - Journal: Steyaert 2024 - - Germline yes - - - - DNA SEQ-PB - - ataxia F008.1/2 Journal: Steyaert 2024 family, 2 affected sibs - - - - - - - - 2 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(1700)] - r.? p.? Maternal (confirmed) - pathogenic (dominant) g.2633380_2633403GGCCTG[(1700)] g.2652734_2652757GGCCTG[(1700)] - - NOP56_000024 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline yes - - - - DNA PCR, SEQ - - SCA Fam5PatII1 PubMed: Kobayashi 2011 2-generation family, affected father/daughter F - Japan - - - - - 2 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(1700)] - r.? p.? Unknown - pathogenic (dominant) g.2633380_2633403GGCCTG[(1700)] g.2652734_2652757GGCCTG[(1700)] - - NOP56_000024 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline/De novo (untested) - - - - - DNA PCR, SEQ - - SCA SCA#3 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(1800)] - r.? p.? Unknown - pathogenic (dominant) g.2633380_2633403GGCCTG[(1800)] g.2652734_2652757GGCCTG[(1800)] - - NOP56_000025 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline/De novo (untested) - - - - - DNA PCR, SEQ - - SCA SCA#2 PubMed: Kobayashi 2011 patient F - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(1800_2300)] - r.? p.? Maternal (confirmed) - pathogenic (dominant) g.2633380_2633403GGCCTG[(1800_2300)] g.2652734_2652757GGCCTG[(1800_2300)] - - NOP56_000005 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline yes - - - - DNA PCR, SEQ - - SCA Fam1PatIII6 PubMed: Kobayashi 2011 5-generation family, 10 affected (6F, 4M) F - Japan - - - - - 10 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2000)] - r.? p.? Paternal (confirmed) - pathogenic (dominant) g.2633380_2633403GGCCTG[(2000)] g.2652734_2652757GGCCTG[(2000)] - - NOP56_000009 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline yes - - - - DNA PCR, SEQ - - SCA Fam4PatII1 PubMed: Kobayashi 2011 2-generation family, affected father/daughter F - Japan - - - - - 2 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2200)] - r.? p.? Maternal (confirmed) - pathogenic (dominant) g.2633380_2633403GGCCTG[(2200)] g.2652734_2652757GGCCTG[(2200)] - - NOP56_000010 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline yes - - - - DNA PCR, SEQ - - SCA Fam2PatII1 PubMed: Kobayashi 2011 2-generation family, 3 affected (son, mother, sister) M - Japan - - - - - 3 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2200)] - r.? p.? Unknown - pathogenic (dominant) g.2633380_2633403GGCCTG[(2200)] g.2652734_2652757GGCCTG[(2200)] - - NOP56_000010 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline/De novo (untested) - - - - - DNA PCR, SEQ - - SCA SCA#1 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2200)] - r.? p.? Unknown - pathogenic (dominant) g.2633380_2633403GGCCTG[(2200)] g.2652734_2652757GGCCTG[(2200)] - - NOP56_000010 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline/De novo (untested) - - - - - DNA PCR, SEQ - - SCA SCA#4 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.3+71_4-85GGCCTG[(2300)] - r.? p.? Paternal (confirmed) - pathogenic (dominant) g.2633380_2633403GGCCTG[(2300)] g.2652734_2652757GGCCTG[(2300)] - - NOP56_000006 >10kb repeat expansion PubMed: Kobayashi 2011 - rs68063608 Germline yes - - - - DNA PCR, SEQ - - SCA Fam3PatII3 PubMed: Kobayashi 2011 3-generation family, 3 affected (5M) M - Japan - - - - - 5 Johan den Dunnen
+?/. 1i c.3+71_4-85GGCCTG[(34_?)] GGCCTG[(34_?)] r.? p.? Maternal (confirmed) - likely pathogenic (dominant) g.2633380_2633403GGCCTG[(34_?)] g.2652734_2652757GGCCTG[(34_?)] - - NOP56_000018 repeat expansion >34 in mother, >45 in son Journal: Steyaert 2024 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG, SEQ-PB - - ataxia F049.1/2 Journal: Steyaert 2024 family, affected son/mother - - - - - - - - 2 Johan den Dunnen
-?/. - c.3+3G>A - r.spl? p.? Unknown - likely benign g.2633312G>A g.2652666G>A NOP56(NM_006392.3):c.3+3G>A - NOP56_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.3+22_3+27del CGGGCG[1] r.(=) p.(=) Unknown - benign g.2633331_2633336del g.2652685_2652690del - - NOP56_000014 - PubMed: Garcia-Murias 2012 - rs28970277 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.3+22_3+27del del-AGCCTG-GGCCTG[6]-CGCCTG[2] r.? p.? Parent #1 - benign g.2633331_2633336del g.2652685_2652690del - - NOP56_000014 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 34 Johan den Dunnen
-/. 1i c.3+22_3+27del del-AGCCTG-GGCCTG[7]-CGCCTG[2] r.? p.? Parent #1 - benign g.2633331_2633336del g.2652685_2652690del - - NOP56_000014 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.3+22_3+27dup CGGGCG[3] r.(=) p.(=) Unknown - benign g.2633331_2633336dup g.2652685_2652690dup - - NOP56_000013 - PubMed: Garcia-Murias 2012 - rs28970277 Germline - - - - - DNA SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.3+22_3+27dup ins-AGCCTG-GGCCTG[3]-CGCCTG[2] r.? p.? Parent #1 - benign g.2633331_2633336dup g.2652685_2652690dup - - NOP56_000013 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 31 Johan den Dunnen
-/. 1i c.3+22_3+27dup ins-GGCCTG[4]-CGCCTG[2] r.? p.? Parent #1 - benign g.2633331_2633336dup g.2652685_2652690dup - - NOP56_000013 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 29 Johan den Dunnen
-/. 1i c.3+22_3+27dup ins-AGCCTG-GGCCTG[3]-CGCCTG[3] r.? p.? Parent #1 - benign g.2633331_2633336dup g.2652685_2652690dup - - NOP56_000013 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.3+22_3+27dup ins-AGCCTG-GGCCTG[6]-CGCCTG[2] r.? p.? Parent #1 - benign g.2633331_2633336dup g.2652685_2652690dup - - NOP56_000013 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.3+71G>A ins-AGCCTG-GGCCTG[3]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633380G>A g.2652734G>A - - NOP56_000026 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 31 Johan den Dunnen
+/. 1i c.3+71G>A ins-AGCCTG-GGCCTG[3]-CGCCTG[3] r.(=) r.(=) Parent #1 - benign g.2633380G>A g.2652734G>A - - NOP56_000026 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
+/. 1i c.3+71G>A del-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633380G>A g.2652734G>A - - NOP56_000026 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 34 Johan den Dunnen
+/. 1i c.3+71G>A ins-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633380G>A g.2652734G>A - - NOP56_000026 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
+/. 1i c.3+71G>A del-AGCCTG-GGCCTG[7]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633380G>A g.2652734G>A - - NOP56_000026 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.3+71_4-85dup GGCCTG[8] r.(=) p.(=) Parent #2 - benign g.2633380_2633403dup g.2652734_2652757dup - - NOP56_000012 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA SCA#3 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
-/. 1i c.3+77_4-85dup del-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633386_2633403dup g.2652740_2652757dup - - NOP56_000015 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 34 Johan den Dunnen
-/. 1i c.3+77_4-85dup ins-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633386_2633403dup g.2652740_2652757dup - - NOP56_000015 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.3+83_4-85dup GGCCTG[6] r.(=) p.(=) Paternal (inferred) - benign g.2633392_2633403dup g.2652746_2652757dup - - NOP56_000008 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA Fam2PatII1 PubMed: Kobayashi 2011 2-generation family, 3 affected (son, mother, sister) M - Japan - - - - - 3 Johan den Dunnen
-/. - c.3+83_4-85dup GGCCTG[6] r.(=) p.(=) Paternal (inferred) - benign g.2633392_2633403dup g.2652746_2652757dup - - NOP56_000008 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA Fam1PatIII6 PubMed: Kobayashi 2011 5-generation family, 10 affected (6F, 4M) F - Japan - - - - - 10 Johan den Dunnen
-/. - c.3+83_4-85dup GGCCTG[6] r.(=) p.(=) Maternal (inferred) - benign g.2633392_2633403dup g.2652746_2652757dup - - NOP56_000008 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA Fam4PatII1 PubMed: Kobayashi 2011 2-generation family, affected father/daughter F - Japan - - - - - 2 Johan den Dunnen
-/. - c.3+83_4-85dup GGCCTG[6] r.(=) p.(=) Maternal (inferred) - benign g.2633392_2633403dup g.2652746_2652757dup - - NOP56_000008 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA Fam5PatII1 PubMed: Kobayashi 2011 2-generation family, affected father/daughter F - Japan - - - - - 2 Johan den Dunnen
-/. - c.3+83_4-85dup GGCCTG[6] r.(=) p.(=) Parent #2 - benign g.2633392_2633403dup g.2652746_2652757dup - - NOP56_000008 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA SCA#2 PubMed: Kobayashi 2011 patient F - Japan - - - - - 1 Johan den Dunnen
-/. - c.3+89_4-85del GGCCTG[3] r.(=) p.(=) Maternal (inferred) - benign g.2633398_2633403del g.2652752_2652757del - - NOP56_000007 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA Fam3PatII3 PubMed: Kobayashi 2011 3-generation family, 3 affected (5M) M - Japan - - - - - 5 Johan den Dunnen
-/. - c.3+89_4-85dup GGCCTG[5] r.(=) p.(=) Parent #2 - benign g.2633398_2633403dup g.2652752_2652757dup - - NOP56_000011 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA SCA#1 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
-/. 1i c.3+89_4-85dup GGCCTG[5] r.(=) p.(=) Parent #2 - benign g.2633398_2633403dup g.2652752_2652757dup - - NOP56_000011 - PubMed: Kobayashi 2011 - - Germline - - - - - DNA PCR, SEQ - - SCA SCA#4 PubMed: Kobayashi 2011 patient M - Japan - - - - - 1 Johan den Dunnen
-/. 1i c.4-85_4-84ins_3+71_4-85 del-AGCCTG-GGCCTG[7]-CGCCTG[2] r.(=) p.(=) Parent #1 - benign g.2633403_2633404ins2633380_2633403 g.2652757_2652758ins2652734_2652757 - - NOP56_000016 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.4-72_4-67del ins-AGCCTG-GGCCTG[3]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633417_2633422del g.2652771_2652776del - - NOP56_000027 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 31 Johan den Dunnen
-/. 1i c.4-72_4-67del ins-GGCCTG[4]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633417_2633422del g.2652771_2652776del - - NOP56_000027 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 29 Johan den Dunnen
-/. 1i c.4-72_4-67del del-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633417_2633422del g.2652771_2652776del - - NOP56_000027 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 34 Johan den Dunnen
-/. 1i c.4-72_4-67del ins-AGCCTG-GGCCTG[6]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633417_2633422del g.2652771_2652776del - - NOP56_000027 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.4-72_4-67del del-AGCCTG-GGCCTG[7]-CGCCTG[2] r.(=) r.(=) Parent #1 - benign g.2633417_2633422del g.2652771_2652776del - - NOP56_000027 - PubMed: Garcia-Murias 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Murias 2012 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.105T>C - r.(?) p.(Ser35=) Unknown - benign g.2633936T>C g.2653290T>C NOP56(NM_006392.4):c.105T>C (p.S35=) - NOP56_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.371-5_371-3del - r.spl? p.? Unknown - likely benign g.2635390_2635392del - NOP56(NM_006392.4):c.371-5_371-3delCTT - IDH3B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.635G>A - r.(?) p.(Arg212His) Unknown - likely benign g.2636036G>A - NOP56(NM_006392.4):c.635G>A (p.(Arg212His)) - IDH3B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948C>G - r.(?) p.(Thr316=) Unknown - likely benign g.2636618C>G g.2655972C>G NOP56(NM_006392.3):c.948C>G (p.T316=) - NOP56_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1167C>T - r.(?) p.(Pro389=) Unknown - likely benign g.2637427C>T - NOP56(NM_006392.4):c.1167C>T (p.P389=) - IDH3B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575C>T - r.(?) p.(Thr525=) Unknown - likely benign g.2638730C>T - NOP56(NM_006392.4):c.1575C>T (p.T525=) - IDH3B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1693G>A - r.(?) p.(Glu565Lys) Unknown - VUS g.2638848G>A g.2658202G>A NOP56(NM_006392.3):c.1693G>A (p.E565K) - NOP56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*148C>T - r.(=) p.(=) Unknown - likely benign g.2639088C>T - IDH3B(NM_174855.3):c.1152G>A (p.*384=) - IDH3B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*470G>C - r.(=) p.(=) Unknown - benign g.2639410G>C g.2658764G>C IDH3B(NM_006899.5):c.1145C>G (p.T382S) - IDH3B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*478G>C - r.(=) p.(=) Unknown - VUS g.2639418G>C - IDH3B(NM_006899.4):c.1137C>G (p.H379Q) - IDH3B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1255C>T - r.(=) p.(=) Unknown - benign g.2640195C>T g.2659549C>T IDH3B(NM_006899.5):c.1047G>A (p.V349=) - IDH3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1274C>A - r.(=) p.(=) Unknown - VUS g.2640214C>A - IDH3B(NM_006899.4):c.1028G>T (p.S343I) - IDH3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1276G>A - r.(=) p.(=) Unknown - likely benign g.2640216G>A - IDH3B(NM_006899.4):c.1026C>T (p.S342=) - IDH3B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1751G>A - r.(=) p.(=) Unknown - likely benign g.2640691G>A - IDH3B(NM_006899.4):c.900C>T (p.Y300=) - IDH3B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1821A>G - r.(=) p.(=) Unknown - VUS g.2640761A>G - IDH3B(NM_006899.4):c.830T>C (p.I277T) - IDH3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2053C>G - r.(=) p.(=) Unknown - VUS g.2640993C>G - IDH3B(NM_006899.4):c.684G>C (p.L228F) - IDH3B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2163A>G - r.(=) p.(=) Unknown - VUS g.2641103A>G g.2660457A>G IDH3B(NM_006899.5):c.665T>C (p.M222T) - IDH3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2192C>T - r.(=) p.(=) Unknown - likely benign g.2641132C>T g.2660486C>T IDH3B(NM_006899.4):c.636G>A (p.K212=) - IDH3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2281del - r.(?) p.(=) Unknown - VUS g.2641221del g.2660575del IDH3B(NM_006899.5):c.547delA (p.I183Lfs*4) - IDH3B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2541G>A - r.(=) p.(=) Unknown - likely benign g.2641481G>A g.2660835G>A IDH3B(NM_006899.4):c.399-6C>T - IDH3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5237G>A - r.(=) p.(=) Unknown - benign g.2644177G>A g.2663531G>A IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=) - IDH3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5237G>A - r.(=) p.(=) Unknown - likely benign g.2644177G>A - IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=) - IDH3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5261G>A - r.(=) p.(=) Unknown - benign g.2644201G>A g.2663555G>A IDH3B(NM_006899.5):c.228C>T (p.V76=) - IDH3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5417C>T - r.(=) p.(=) Unknown - likely benign g.2644357C>T g.2663711C>T IDH3B(NM_006899.4):c.165G>A (p.P55=) - IDH3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5467C>G - r.(=) p.(=) Unknown - benign g.2644407C>G g.2663761C>G IDH3B(NM_006899.5):c.118-3G>C - IDH3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5618G>C - r.(=) p.(=) Unknown - likely benign g.2644558G>C g.2663912G>C IDH3B(NM_006899.5):c.117+13C>G - IDH3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5625G>T - r.(=) p.(=) Unknown - benign g.2644565G>T g.2663919G>T IDH3B(NM_006899.5):c.117+6C>A - IDH3B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5666T>C - r.(=) p.(=) Unknown - likely benign g.2644606T>C g.2663960T>C IDH3B(NM_006899.4):c.82A>G (p.T28A) - IDH3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5674C>T - r.(=) p.(=) Unknown - likely benign g.2644614C>T - IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D) - IDH3B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5674C>T - r.(=) p.(=) Unknown - likely benign g.2644614C>T - IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D) - IDH3B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5697_*5698insAA - r.(=) p.(=) Unknown - likely pathogenic g.2644637_2644638insAA - IDH3B(NM_006899.4):c.50_51insTT (p.G18Sfs*10) - IDH3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5712C>T - r.(=) p.(=) Unknown - VUS g.2644652C>T g.2664006C>T IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A - IDH3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5712C>T - r.(=) p.(=) Unknown - pathogenic g.2644652C>T - IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A - IDH3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5853C>T - r.(=) p.(=) Unknown - benign g.2644793C>T g.2664147C>T IDH3B(NM_006899.5):c.36+6G>A - IDH3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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