341 Matching Annotations
- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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p.A1025R is known to disrupt the interaction between the C-terminus of PALB2 and BRCA2
HGVS: NM_024675.3:c.3073_3074delinsCG p.(Ala1025Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3323delA p.(Tyr1108Serfs*16)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3362delG p.(Gly1121Valfs*3)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3497delG p.(Gly1166Valfs*25)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2145_2146delTA p.(Asp715Glufs*2)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.104T>C p.(Leu35Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.751C>T p.(Gln251Ter)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1653T>A p.(Tyr551Ter)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2831T>A p.(Ile944Asn)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.71T>C p.(Leu24Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3209T>C p.(Leu1070Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3549C>A p.(Tyr1183Ter)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3089C>T p.(Thr1030Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.899C>T p.(Thr300Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3539T>C p.(Ile1180Thr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2792T>G p.(Leu931Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2841G>T p.(Leu947Phe)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2798G>A p.(Cys933Tyr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3073G>A p.(Ala1025Thr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2840T>C p.(Leu947Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1226A>G p.(Tyr409Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3061G>A p.(Gly1021Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3278T>C p.(Ile1093Thr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.110G>A p.(Arg37His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2810G>A p.(Gly937Glu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.398G>C p.(Ser133Thr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3191A>G p.(Tyr1064Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1847A>G p.(Asp616Gly)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2014G>C p.(Glu672Gln)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.109C>A p.(Arg37Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2612A>G p.(Asp871Gly)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2289G>C p.(Leu763Phe)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2852C>T p.(Ser951Phe)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3320T>C p.(Leu1107Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.90G>T p.(Lys30Asn)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.505C>A p.(Leu169Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.109C>T p.(Arg37Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3132A>C p.(Gln1044His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3508C>T p.(His1170Tyr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3262C>T p.(Pro1088Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.956C>A p.(Ser319Tyr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1600T>G p.(Ser534Ala)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2755G>A p.(Val919Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2816T>G p.(Leu939Trp)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.83A>G p.(Tyr28Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3520G>A p.(Gly1174Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3418T>G p.(Trp1140Gly)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3494C>T p.(Ser1165Leu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2794G>A p.(Val932Met)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3342G>C p.(Glu1114His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3356T>C p.(Leu1119Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3404G>A p.(Gly1135Glu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.100C>T p.(Arg34Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3128G>C p.(Gly1043Ala)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2234A>G p.(Lys745Glu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1222T>C p.(Tyr408His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1190C>T p.(Thr397Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3500C>T p.(Thr1167Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2807T>C p.(Leu936Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1238C>A p.(Thr413Lys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3307G>C p.(Val1103Leu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2792T>C p.(Leu931Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.101G>A p.(Arg34His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3492G>T p.(Trp1164Cys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1676A>G p.(Gln559Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3249G>C p.(Glu1083Asp)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1421G>A p.(Ser474Asn)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3296C>G p.(Thr1099Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1189A>T p.(Thr397Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3179G>C p.(Cys1060Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1732A>G p.(Ser578Gly)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3433G>C p.(Gly1145Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2148T>A p.(Asn716Lys)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1010T>C p.(Leu337Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1846G>C p.(Asp616His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2597G>T p.(Gly866Val)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.925A>G p.(Ile309Val)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.26T>A p.(Leu9His)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2993G>A p.(Gly998Glu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2873A>C p.(Gln958Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3056T>C p.(Val1019Ala)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2590C>T p.(Pro864Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.629C>T p.(Pro210Leu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3428T>C p.(Leu1143Pro)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.232G>A p.(Val78Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2200A>T p.(Thr734Ser)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.23C>T p.(Pro8Leu)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1250C>A p.(Ser417Tyr)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1145G>T p.(Ser382Ile)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3449T>G p.(Leu1150Arg)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3307G>A p.(Val1103Met)
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)
Tags
- ClinVarID:126767
- Variant:61
- Variant:38
- Variant:5
- CAID:CA10583351
- ClinVarID:126746
- CAID:CA294249
- Variant:50
- CAID:CA395139263
- ClinVarID:182773
- Variant:9
- ClinVarID:142465
- CAID:CA168345
- Variant:25
- ClinVarID:186840
- CAID:CA168538
- Variant:57
- Variant:27
- Variant:81
- Variant:82
- CAID:CA288435
- ClinVarID:186939
- Variant:58
- Variant:56
- Variant:86
- CAID:CA161330
- ClinVarID:128144
- CAID:CA299750
- ClinVarID:141256
- Variant:39
- ClinVarID:126731
- CAID:CA168427
- CAID:CA288488
- ClinVarID:245657
- CAID:CA288472
- CAID:CA7963617
- CAID:CA333921
- ClinVarID:126674
- CAID:CA299737
- Variant:54
- ClinVarID:126682
- CAID:CA395137415
- Variant:83
- ClinVarID:1243
- ClinVarID:126761
- ClinVarID:225856
- ClinVarID:143008
- ClinVarID:182775
- CAID:CA269619
- ClinVarID:126741
- CAID:CA299753
- ClinVarID:126780
- CAID:CA167019
- Variant:79
- ClinVarID:126699
- CAID:CA166841
- ClinVarID:241550
- ClinVarID:126591
- CAID:CA190537
- Variant:67
- ClinVarID:126734
- ClinVarID:126709
- Variant:75
- Variant:34
- ClinVarID:233127
- CAID:CA191499
- ClinVarID:142504
- ClinVarID:241525
- Variant:72
- CAID:CA269558
- ClinVarID:126683
- ClinVarID:126638
- CAID:CA7963440
- CAID:CA288386
- CAID:CA10579994
- Variant:2
- ClinVarID:126774
- ClinVarID:126652
- CAID:CA197176
- ClinVarID:230665
- Variant:55
- Variant:48
- Variant:3
- CAID:CA7963328
- Variant:20
- Variant:7
- CAID:CA288475
- CAID:CA7963665
- CAID:CA161336
- ClinVarID:126716
- CG:BulkAnnotation
- Variant:35
- CAID:CA167348
- ClinVarID:126726
- Variant:84
- ClinVarID:126594
- CAID:CA299799
- Variant:29
- CAID:CA269522
- Variant:45
- CAID:CA269645
- CAID:CA294144
- CAID:CA196291
- ClinVarID:126669
- CAID:CA196017
- Variant:22
- CAID:CA7963488
- CAID:CA7963609
- Variant:73
- Variant:21
- CAID:CA161333
- ClinVarID:126779
- Variant:65
- CAID:CA190922
- Variant:12
- CAID:CA269666
- Variant:76
- Variant:36
- Variant:37
- ClinVarID:182770
- ClinVarID:126755
- CAID:CA151236
- ClinVarID:232781
- CAID:CA395137900
- ClinVarID:184941
- Variant:71
- CAID:CA166991
- CAID:CA163734
- Variant:10
- CAID:CA288451
- ClinVarID:141974
- CAID:CA164933
- CAID:CA191059
- CAID:CA288460
- ClinVarID:185273
- CAID:CA151222
- Variant:92
- CAID:CA299747
- ClinVarID:182774
- Variant:85
- CAID:CA251717
- Variant:42
- ClinVarID:419370
- Variant:87
- ClinVarID:142048
- CAID:CA151212
- ClinVarID:188058
- CAID:CA269625
- ClinVarID:220218
- CAID:CA151242
- Variant:30
- CAID:CA151230
- CAID:CA151239
- Variant:49
- Variant:51
- CAID:CA269663
- Variant:40
- Variant:52
- CAID:CA168501
- ClinVarID:232905
- CAID:CA16620143
- Variant:62
- CAID:CA186642
- Variant:80
- ClinVarID:230588
- CAID:CA169555
- ClinVarID:126739
- CAID:CA269636
- Variant:41
- ClinVarID:185108
- CAID:CA279533895
- ClinVarID:126630
- ClinVarID:229738
- Variant:91
- CAID:CA10579934
- ClinVarID:217917
- ClinVarID:232977
- Variant:66
- Variant:70
- Variant:69
- Variant:26
- Variant:74
- Variant:19
- ClinVarID:126613
- Variant:15
- CAID:CA395139751
- Variant:31
- Variant:33
- ClinVarID:126782
- ClinVarID:126742
- ClinVarID:241553
- ClinVarID:142079
- CAID:CA161327
- ClinVarID:128138
- CAID:CA348301
- CAID:CA269654
- ClinVarID:187262
- ClinVarID:126647
- CAID:CA10579945
- ClinVarID:232317
- ClinVarID:126777
- CAID:CA279502031
- Variant:88
- ClinVarID:183828
- CAID:CA7963465
- Variant:13
- CAID:CA269622
- Variant:60
- Variant:90
- Variant:6
- Variant:23
- Variant:32
- Variant:68
- Variant:44
- Variant:78
- Variant:1
- CAID:CA10580016
- CAID:CA151233
- Variant:8
- Variant:89
- CAID:CA193659
- ClinVarID:582957
- CAID:CA288441
- ClinVarID:141936
- ClinVarID:126747
- CGType:Variant
- Variant:59
- ClinVarID:128134
- CAID:CA10583357
- ClinVarID:241560
- Variant:14
- CAID:CA277851
- ClinVarID:136133
- Variant:28
- Variant:64
- Variant:16
- Variant:18
- Variant:24
- CAID:CA10583375
- ClinVarID:482010
- ClinVarID:126640
- ClinVarID:126732
- CAID:CA269483
- Variant:46
- ClinVarID:185069
- CAID:CA288398
- CAID:CA151249
- Variant:11
- CAID:CA294118
- CAID:CA269610
- CAID:CA170010
- ClinVarID:126595
- Variant:53
- ClinVarID:126670
- Variant:63
- ClinVarID:216752
- ClinVarID:657328
- CAID:CA10580054
- CAID:CA339433
- CA923726356
- ClinVarID:141320
- ClinVarID:126590
- Variant:47
- Variant:43
- ClinVarID:186029
- ClinVarID:126738
- CAID:CA331796
- ClinVarID:126582
- Variant:17
- CAID:CA269551
- Variant:77
- ClinVarID:480232
- CAID:CA923726356
- ClinVarID:570698
- Variant:4
- ClinVarID:140850
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3539T>C p.(Ile1180Thr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3428T>C p.(Leu1143Pro)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3418T>G p.(Trp1140Gly)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3356T>C p.(Leu1119Pro)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3342G>C p.(Gln1114His)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3314T>C p.(Val1105Ala)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3278T>C p.(Ile1093Thr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3251C>T p.(Ser1084Leu)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3223A>G p.(Ser1075Gly)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3128G>C p.(Gly1043Ala)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3122A>C p.(Lys1041Thr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3089C>T p.(Thr1030Ile)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3073G>A p.(Ala1025Thr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3054G>C p.(Glu1018Asp)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3049G>A p.(Ala1017Thr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2993G>A p.(Gly998Glu)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2896A>G p.(Ile966Val)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2865T>A p.(Ser955Arg)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2841G>C p.(Leu947Phe)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2840T>C p.(Leu947Ser)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2816T>G p.(Leu939Trp)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2794G>A p.(Val932Met)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.2590C>T p.(Pro864Ser)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.956C>A p.(Ser319Tyr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.949A>C p.(Thr317Pro)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.629C>T p.(Pro210Leu)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.620C>G p.(Pro207Arg)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.505C>A p.(Leu169Ile)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.371C>T p.(Thr124Ile)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.344G>T p.(Gly115Val)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.280G>A p.(Glu94Lys)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.242A>G p.(Lys81Arg)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.232G>A p.(Val78Ile)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.226A>G p.(Ile76Val)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.194C>T p.(Pro65Leu)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.136C>T p.(His46Tyr)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.110G>A p.(Arg37His)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.104T>C p.(Leu35Pro)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.94C>G p.(Leu32Val)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.90G>T p.(Lys30Asn)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.83A>G p.(Tyr28Cys)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.53A>G p.(Lys18Arg)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.23C>T p.(Pro8Leu)
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.11C>T p.(Pro4Leu)
Tags
- CAID:CA239946
- Variant:5
- Variant:38
- ClinVarID:182774
- Variant:42
- CAID:CA151242
- Variant:30
- CAID:CA395139263
- CAID:CA269625
- Variant:25
- Variant:9
- CAID:CA151239
- CAID:CA269663
- CAID:CA168501
- Variant:27
- CAID:CA186642
- ClinVarID:128124
- CAID:CA348162
- Variant:41
- CAID:CA288504
- CAID:CA269636
- CAID:CA161315
- ClinVarID:188387
- CAID:CA279500159
- Variant:19
- CAID:CA10579934
- Variant:31
- CAID:CA299750
- ClinVarID:126731
- Variant:26
- ClinVarID:232977
- ClinVarID:217917
- Variant:39
- Variant:15
- Variant:33
- ClinVarID:126782
- ClinVarID:241553
- ClinVarID:126708
- CAID:CA193686
- ClinVarID:126647
- ClinVarID:126682
- ClinVarID:220168
- CAID:CA331799
- ClinVarID:126761
- CAID:CA269654
- CAID:CA269619
- ClinVarID:126741
- ClinVarID:183828
- CAID:CA279502031
- CAID:CA7963465
- Variant:13
- ClinVarID:126699
- ClinVarID:126760
- ClinVarID:487020
- ClinVarID:128150
- Variant:23
- Variant:6
- ClinVarID:187058
- Variant:32
- CAID:CA161321
- Variant:44
- Variant:1
- CAID:CA7963418
- Variant:8
- CAID:CA151233
- Variant:34
- ClinVarID:126727
- ClinVarID:582957
- CAID:CA288441
- ClinVarID:126747
- CAID:CA395144524
- CGType:Variant
- Variant:14
- ClinVarID:126683
- ClinVarID:126593
- CAID:CA277851
- CAID:CA395140053
- Variant:28
- CAID:CA288386
- ClinVarID:422560
- Variant:16
- Variant:2
- ClinVarID:126774
- ClinVarID:126652
- Variant:18
- Variant:24
- ClinVarID:126693
- Variant:3
- CAID:CA294183
- Variant:20
- Variant:7
- ClinVarID:126716
- ClinVarID:126781
- Variant:11
- CAID:CA334766
- CAID:CA269610
- CAID:CA161318
- Variant:35
- CG:BulkAnnotation
- CAID:CA269585
- ClinVarID:126758
- CAID:CA299799
- Variant:29
- Variant:45
- ClinVarID:126743
- ClinVarID:657666
- ClinVarID:657328
- ClinVarID:126669
- CAID:CA196624
- Variant:22
- CAID:CA279500276
- ClinVarID:126590
- CAID:CA288392
- Variant:21
- CAID:CA161333
- ClinVarID:126779
- Variant:12
- CAID:CA269666
- ClinVarID:126738
- CAID:CA7963442
- CAID:CA331796
- CAID:CA395139432
- Variant:43
- Variant:37
- Variant:36
- Variant:17
- CAID:CA151236
- ClinVarID:126755
- CAID:CA395139336
- Variant:10
- Variant:40
- Variant:4
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3492G>T p.(W1164C)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3191A>G p.(Y1064C)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2574T>C p.(V858=)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.92C>T p.(T31I)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.83A>G p.(Y28C)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.71T>C p.(L24S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.688G>T p.(E230X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.629C>T p.(P210L)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.53A>G p.(K18R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.514_517delTCTG p.(S172fs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.400G>A p.(D134N)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3549C>G p.(Y1183X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3548A>G p.(Y1183C)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3539T>C p.(I1180T)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3520G>A p.(G1174R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3515T>C p.(L1172P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3478T>C p.(S1160P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3476G>T p.(W1159L)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3428T>A p.(L1143H)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3367G>A p.(V1123M)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3356T>C p.(L1119P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3331C>G p.(P1111A)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3209T>C p.(L1070P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3172T>C p.(S1058P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3152T>G p.(I1051S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3128G>A p.(G1043D)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3119T>C p.(L1040S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3113G>A p.(W1038X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3110T>C p.(I1037T)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3089C>T p.(T1030I)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3073_3074delinsCG p.(A1025R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3054G>T p.(E1018D)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.3026delC p.(P1009Lfs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2993G>A p.(G998E)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2962C>T p.(Q988X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2915T>A p.(L972Q)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2897T>C p.(I966T)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2882T>C p.(L961P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2840T>C p.(L947S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2831T>A p.(I944N)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2819A>G p.(E940G)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2816T>G p.(L939W)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2809G>A p.(G937R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2792T>G p.(L931R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2780A>C p.(D927A)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2734T>G p.(W912G)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2642_2645dupGTTG p.(C882Wfs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2612A>G p.(D871G)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2593T>C p.(S865P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2590C>T p.(P864S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2120C>T p.(P707L)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2117C>T p.(T706I)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2014G>C p.(E672Q)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2006delA p.(E669Gfs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1865T>C p.(L622P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.172_175delTTGT p.(Q60Rfs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1676A>G p.(Q559R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1653T>A p.(Y551X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1592delT p.(L531Cfs)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1544A>G p.(K515R)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1492G>T p.(D498Y)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.13C>T p.(P5S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1250C>A p.(S417Y)
Tags
- CAID:CA163908
- Variant:61
- Variant:38
- Variant:50
- ClinVarID:182773
- Variant:25
- Variant:9
- ClinVarID:186840
- Variant:57
- Variant:27
- CAID:CA161315
- ClinVarID:186939
- Variant:58
- Variant:56
- ClinVarID:182786
- ClinVarID:420826
- CAID:CA395141313
- Variant:39
- CAID:CA395144208
- ClinVarID:219647
- CAID:CA151229
- CAID:CA161342
- CAID:CA250432
- CAID:CA163622
- Variant:54
- ClinVarID:126761
- CAID:CA395141224
- ClinVarID:1243
- ClinVarID:126699
- CAID:CA192169
- ClinVarID:530038
- Variant:67
- ClinVarID:126749
- ClinVarID:126600
- CAID:CA185966
- Variant:34
- CAID:CA10579985
- CAID:CA395141474
- ClinVarID:567901
- CAID:CA395121845
- ClinVarID:126683
- CAID:CA395137985
- CAID:CA395144862
- ClinVarID:484219
- ClinVarID:126623
- ClinVarID:126774
- ClinVarID:126740
- ClinVarID:1246
- Variant:55
- Variant:48
- CAID:CA197176
- Variant:20
- CG:BulkAnnotation
- CAID:CA658658444
- CAID:CA167348
- Variant:35
- CAID:CA251004
- CAID:CA269492
- CAID:CA395145110
- ClinVarID:922719
- ClinVarID:126758
- Variant:29
- Variant:45
- CAID:CA196291
- ClinVarID:126669
- CAID:CA196017
- Variant:22
- ClinVarID:126706
- Variant:21
- CAID:CA161333
- Variant:65
- ClinVarID:182741
- ClinVarID:186824
- CAID:CA151250
- Variant:12
- Variant:36
- Variant:37
- CAID:CA299784
- CAID:CA195974
- ClinVarID:182790
- Variant:10
- CAID:CA299747
- CAID:CA395139673
- CAID:CA279530867
- CAID:CA251717
- Variant:42
- CAID:CA151242
- Variant:30
- CAID:CA269625
- CAID:CA151230
- CAID:CA288478
- CAID:CA395137855
- Variant:49
- CAID:CA151239
- Variant:52
- Variant:51
- CAID:CA279524947
- ClinVarID:134994
- Variant:62
- ClinVarID:230588
- CAID:CA350039
- Variant:41
- CAID:CA210470
- ClinVarID:126630
- Variant:19
- CAID:CA10579934
- Variant:31
- Variant:66
- ClinVarID:232977
- Variant:70
- Variant:69
- Variant:26
- ClinVarID:461007
- Variant:33
- Variant:15
- ClinVarID:126613
- ClinVarID:142079
- ClinVarID:241553
- ClinVarID:1245
- ClinVarID:229718
- CAID:CA161327
- CAID:CA269654
- ClinVarID:187262
- CAID:CA7963653
- CAID:CA395142764
- CAID:CA16620118
- CAID:CA294562
- CAID:CA7963465
- Variant:13
- Variant:60
- Variant:23
- CAID:CA299663
- Variant:32
- Variant:68
- Variant:44
- Variant:8
- CAID:CA151233
- CAID:CA164468
- ClinVarID:128136
- ClinVarID:126747
- CGType:Variant
- Variant:59
- ClinVarID:126711
- Variant:14
- CAID:CA494163316
- Variant:28
- Variant:64
- Variant:16
- Variant:18
- CAID:CA395122261
- CAID:CA395144928
- Variant:24
- ClinVarID:126609
- CAID:CA395125757
- ClinVarID:484186
- Variant:46
- ClinVarID:185518
- CAID:CA288398
- Variant:11
- ClinVarID:126607
- ClinVarID:126595
- Variant:53
- ClinVarID:126670
- CAID:CA395137656
- Variant:63
- ClinVarID:216752
- CAID:CA10580054
- CAID:CA339433
- Variant:47
- ClinVarID:126738
- Variant:43
- CAID:CA331796
- Variant:17
- CAID:CA269551
- ClinVarID:484164
- CAID:CA923726356
- Variant:40
- ClinVarID:460996
Annotators
URL
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