Full data view for gene BRAF

Information The variants shown are described using the NM_004333.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-5A>G r.(?) p.(=) Unknown - likely benign g.140624508T>C g.140924708T>C - - BRAF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A r.(?) p.(Ala12=) Unknown - likely benign g.140624468C>T - BRAF(NM_001354609.1):c.36G>A (p.A12=) - BRAF_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>T r.(?) p.(Pro14Leu) Unknown - likely benign g.140624463G>A - BRAF(NM_004333.4):c.41C>T (p.(Pro14Leu)) - BRAF_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64G>A r.(?) p.(Asp22Asn) Unknown - VUS g.140624440C>T g.140924640C>T BRAF(NM_004333.4):c.64G>A (p.D22N), BRAF(NM_004333.6):c.64G>A (p.D22N) - BRAF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64G>A r.(?) p.(Asp22Asn) Unknown - VUS g.140624440C>T - BRAF(NM_004333.4):c.64G>A (p.D22N), BRAF(NM_004333.6):c.64G>A (p.D22N) - BRAF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78G>T r.(?) p.(Glu26Asp) Unknown - benign g.140624426C>A g.140924626C>A BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D) - BRAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78G>T r.(?) p.(Glu26Asp) Unknown - benign g.140624426C>A - BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D) - BRAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>T r.(?) p.(Glu26Asp) Unknown - likely benign g.140624426C>A - BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D) - BRAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89_100del r.(?) p.(Gly30_Ala33del) Unknown - VUS g.140624414_140624425del - BRAF(NM_004333.4):c.89_100delGCGCCGGCGCCG (p.(Gly30_Ala33del)) - BRAF_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95_100del r.(?) p.(Gly32_Ala33del) Unknown - likely benign g.140624420_140624425del - BRAF(NM_004333.4):c.95_100delGCGCCG (p.(Gly32_Ala33del)) - BRAF_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95_100dup r.(?) p.(Gly32_Ala33dup) Unknown - likely benign g.140624420_140624425dup g.140924620_140924625dup BRAF(NM_004333.4):c.100_101insGCGCCG (p.(Gly32_Ala33dup)) - BRAF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - VUS g.140624391G>A - BRAF(NM_004333.6):c.113C>T (p.A38V) - BRAF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-12A>C r.(=) p.(=) Unknown - likely benign g.140550024T>G g.140850224T>G - - BRAF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181A>G r.(?) p.(Ile61Val) Unknown - VUS g.140549970T>C - BRAF(NM_004333.4):c.181A>G (p.(Ile61Val)) - BRAF_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205G>A r.(?) p.(Gly69Ser) Unknown - VUS g.140549946C>T - BRAF(NM_001354609.1):c.205G>A (p.G69S) - BRAF_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+18A>G r.(=) p.(=) Unknown - likely benign g.140549893T>C g.140850093T>C BRAF(NM_004333.4):c.240+18A>G - BRAF_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.261C>G r.(?) p.(Ser87Arg) Unknown - VUS g.140534652G>C g.140834852G>C BRAF(NM_004333.4):c.261C>G (p.(Ser87Arg)) - BRAF_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Thr119=) Unknown - likely benign g.140534556G>A g.140834756G>A BRAF(NM_004333.4):c.357C>T (p.(=)), BRAF(NM_004333.6):c.357C>T (p.T119=) - BRAF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Thr119=) Unknown - likely benign g.140534556G>A g.140834756G>A BRAF(NM_004333.4):c.357C>T (p.(=)), BRAF(NM_004333.6):c.357C>T (p.T119=) - BRAF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368C>T r.(?) p.(Ser123Phe) Unknown - VUS g.140534545G>A - BRAF(NM_001354609.2):c.368C>T (p.S123F) - BRAF_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394C>T r.(?) p.(Pro132Ser) Unknown - VUS g.140534519G>A - BRAF(NM_004333.6):c.394C>T (p.P132S) - BRAF_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608+4T>C r.spl? p.? Unknown - VUS g.140508688A>G - BRAF(NM_004333.6):c.608+4T>C - BRAF_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608+19G>C r.(=) p.(=) Unknown - likely benign g.140508673C>G - BRAF(NM_004333.4):c.608+19G>C - BRAF_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.609-5T>C r.spl? p.? Unknown - VUS g.140507867A>G - BRAF(NM_004333.4):c.609-5T>C (p.?) - BRAF_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Asn236=) Unknown - likely benign g.140507763G>A - BRAF(NM_004333.4):c.708C>T (p.N236=) - BRAF_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721A>C r.(?) p.(Thr241Pro) Unknown ACMG pathogenic (dominant) g.140501351T>G - - - BRAF_000095 ACMG: PS2_VSTR, PS4_MOD, PM5, PM2_SUP, PP3 PMID: 17704260, 18042262, 28404629, 19206169 VCV000029807.5 - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - NS7 189714 - - M no - - - - - - 1 Andreas Laner
+/. - c.722C>T r.(?) p.(Thr241Met) Unknown - pathogenic g.140501350G>A g.140801550G>A BRAF(NM_004333.6):c.722C>T (p.T241M) - BRAF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.722C>T r.(?) p.(Thr241Met) Unknown - pathogenic g.140501350G>A g.140801550G>A BRAF(NM_004333.6):c.722C>T (p.T241M) - BRAF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.741T>G r.(?) p.(Phe247Leu) Unknown - likely pathogenic g.140501331A>C g.140801531A>C - - BRAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769C>A r.(?) p.(Gln257Lys) Unknown - pathogenic g.140501303G>T g.140801503G>T - - BRAF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.770A>G r.?= p.(Gln257Arg) Unknown - likely pathogenic g.140501302T>C g.140801502T>C - - BRAF_000002 - PubMed: Joyce 2016 - - De novo - - - - - DNA SEQ blood - NS7 - PubMed: Joyce 2016 - M - (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+/. - c.770A>G r.(?) p.(Gln257Arg) Unknown - pathogenic g.140501302T>C g.140801502T>C BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R) - BRAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.770A>G r.(?) p.(Gln257Arg) Unknown - pathogenic g.140501302T>C - BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R) - BRAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.770A>G r.(?) p.(Gln257Arg) Unknown - pathogenic g.140501302T>C - BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R) - BRAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>G r.(?) p.(Arg260Gly) Unknown - VUS g.140501294G>C g.140801494G>C - - BRAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.785A>C r.(?) p.(Gln262Pro) Unknown - likely pathogenic g.140501287T>G g.140801487T>G - - BRAF_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.793G>C r.(?) p.(Gly265Arg) Unknown - likely pathogenic g.140501279C>G - - - BRAF_000106 - - - rs397516905 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837G>A r.(?) p.(Met279Ile) Unknown - likely benign g.140501235C>T g.140801435C>T BRAF(NM_004333.4):c.837G>A (p.(Met279Ile)) - BRAF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.837G>A r.(?) p.(Met279Ile) Unknown - VUS g.140501235C>T - BRAF(NM_004333.4):c.837G>A (p.(Met279Ile)) - BRAF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866T>A r.(?) p.(Leu289Gln) Unknown - VUS g.140500276A>T - - - BRAF_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.900A>C r.(=) p.(=) Unknown - VUS g.140500242T>G - - - BRAF_000094 - - - - De novo ? - - - - DNA SEQ-NG White blood cells gene panel including PTPN11, SOS1, RAF1, BRAF, HRAS and CBL NS - - - F ? Egypt - - - - - 1 Alaaeldin Fayez
+?/. - c.980+1G>A r.spl? p.? Unknown ACMG pathogenic g.140500161C>T - - - BRAF_000082 - PubMed: Mendonca 2021 - - Somatic - 0.031 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 55 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-?/. - c.1002G>A r.(?) p.(Pro334=) Unknown - likely benign g.140494246C>T g.140794446C>T BRAF(NM_004333.4):c.1002G>A (p.P334=) - BRAF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021C>G r.(?) p.(Pro341Ala) Unknown - VUS g.140494227G>C - BRAF(NM_001354609.2):c.1021C>G (p.P341A) - BRAF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024A>G r.(?) p.(Ile342Val) Unknown - likely benign g.140494224T>C g.140794424T>C BRAF(NM_004333.4):c.1024A>G (p.(Ile342Val)), BRAF(NM_004333.6):c.1024A>G (p.I342V) - BRAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024A>G r.(?) p.(Ile342Val) Unknown - VUS g.140494224T>C - BRAF(NM_004333.4):c.1024A>G (p.(Ile342Val)), BRAF(NM_004333.6):c.1024A>G (p.I342V) - BRAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039C>T r.(?) p.(Arg347*) Unknown - VUS g.140494209G>A - BRAF(NM_004333.4):c.1039C>T (p.R347*) - BRAF_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1058A>G r.(?) p.His353Arg Unknown ACMG VUS g.140494190T>C g.140794390T>C - - BRAF_000070 ACMG grading: PM2 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
-?/. - c.1068A>G r.(?) p.(Gln356=) Unknown - likely benign g.140494180T>C - BRAF(NM_004333.4):c.1068A>G (p.Q356=) - BRAF_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1085G>A r.(?) p.(Arg362Gln) Unknown - likely pathogenic g.140494163C>T g.140794363C>T - - BRAF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1122A>G r.(?) p.(Ile374Met) Unknown - VUS g.140494126T>C - BRAF(NM_004333.6):c.1122A>G (p.(Ile374Met)) - BRAF_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1140+2T>A r.spl? p.? Unknown - VUS g.140494106A>T - BRAF(NM_004333.6):c.1140+2T>A - BRAF_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1141-19C>T r.(=) p.(=) Unknown - benign g.140487403G>A g.140787603G>A BRAF(NM_001354609.2):c.1141-19C>T - BRAF_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141G>A r.(?) p.(Asp381Asn) Unknown - VUS g.140487384C>T - BRAF(NM_001354609.1):c.1141G>A (p.D381N), BRAF(NM_004333.4):c.1141G>A (p.(Asp381Asn)) - BRAF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141G>A r.(?) p.(Asp381Asn) Unknown - VUS g.140487384C>T - BRAF(NM_001354609.1):c.1141G>A (p.D381N), BRAF(NM_004333.4):c.1141G>A (p.(Asp381Asn)) - BRAF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150A>G r.(?) p.(Arg384Gly) Unknown - likely benign g.140487375T>C g.140787575T>C - - BRAF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165C>T r.(?) p.(Arg389Cys) Unknown - likely benign g.140487360G>A - BRAF(NM_004333.6):c.1165C>T (p.R389C) - BRAF_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165C>T r.(?) p.(Arg389Cys) Unknown - likely benign g.140487360G>A - BRAF(NM_004333.6):c.1165C>T (p.R389C) - BRAF_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1205C>A r.(?) p.(Pro402His) Unknown - likely benign g.140482930G>T - BRAF(NM_004333.4):c.1205C>A (p.(Pro402His)) - BRAF_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227A>G r.(?) p.(Ser409=) Unknown - benign g.140482908T>C g.140783108T>C BRAF(NM_004333.4):c.1227A>G (p.S409=), BRAF(NM_004333.6):c.1227A>G (p.S409=) - BRAF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227A>G r.(?) p.(Ser409=) Unknown - likely benign g.140482908T>C g.140783108T>C BRAF(NM_004333.4):c.1227A>G (p.S409=), BRAF(NM_004333.6):c.1227A>G (p.S409=) - BRAF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271G>A r.(?) p.(Arg424Gln) Unknown - VUS g.140482864C>T - BRAF(NM_004333.6):c.1271G>A (p.R424Q) - BRAF_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1315-18T>G r.(=) p.(=) Unknown - benign g.140481511A>C g.140781711A>C BRAF(NM_004333.6):c.1315-18T>G - BRAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1315-18T>G r.(=) p.(=) Unknown - benign g.140481511A>C g.140781711A>C BRAF(NM_004333.6):c.1315-18T>G - BRAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332G>A r.(?) p.(Arg444=) Unknown - likely benign g.140481476C>T g.140781676C>T BRAF(NM_004333.6):c.1332G>A (p.R444=) - BRAF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1383A>G r.(?) p.(Gln461=) Unknown - benign g.140481425T>C g.140781625T>C BRAF(NM_001374258.1):c.1503A>G (p.Q501=) - BRAF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1383A>G r.(?) p.(Gln461=) Unknown - benign g.140481425T>C - BRAF(NM_001374258.1):c.1503A>G (p.Q501=) - BRAF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1390G>A r.(?) p.(Gly464Arg) Unknown - pathogenic g.140481418C>T g.140781618C>T - - BRAF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1391G>C r.(?) p.(Gly464Ala) Unknown - likely pathogenic g.140481417C>G - BRAF(NM_004333.6):c.1391G>C (p.G464A) - BRAF_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1391G>T r.(?) p.(Gly464Val) Unknown - pathogenic g.140481417C>A g.140781617C>A - - BRAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1403T>C r.(?) p.(Phe468Ser) Unknown - pathogenic g.140481405A>G - - - BRAF_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1405G>A r.(?) p.(Gly469Arg) Unknown - likely pathogenic g.140481403C>T - - - BRAF_000098 - - - - De novo - - - - - DNA SEQ-NG - - NS7 Patient 5 - - M no China - - - - - 1 Simin Zheng
+/. 11 c.1406G>A r.(?) p.(Gly469Glu) Unknown ACMG pathogenic g.140481402C>T g.140781602C>T - - BRAF_000132 - - ClinVar-13974 rs121913355 De novo - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1406G>C r.(?) p.(Gly469Ala) Unknown - pathogenic g.140481402C>G - - - BRAF_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1411G>T r.(?) p.(Val471Phe) Unknown ACMG pathogenic g.140481397C>A g.140781597C>A - - BRAF_000131 - - ClinVar-40367 rs121913376 Germline - - - - - DNA SEQ-NG-I peripheral blood CES CHD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1429C>T r.(?) p.(His477Tyr) Unknown - likely benign g.140481379G>A g.140781579G>A BRAF(NM_004333.4):c.1429C>T (p.(His477Tyr)) - BRAF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1433-19A>G r.(=) p.(=) Unknown - likely benign g.140477894T>C g.140778094T>C BRAF(NM_004333.6):c.1433-19A>G - BRAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1433-19A>G r.(=) p.(=) Unknown - likely benign g.140477894T>C g.140778094T>C BRAF(NM_004333.6):c.1433-19A>G - BRAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1442C>A r.(?) p.(Ala481Glu) Parent #1 - likely pathogenic g.140477866G>T g.140778066G>T - - BRAF_000075 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397516892 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1449A>T r.(?) p.(Lys483Asn) Unknown - likely pathogenic g.140477859T>A - - - BRAF_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1460T>G r.(?) p.(Val487Gly) Unknown ACMG pathogenic (dominant) g.140477848A>C g.140778048A>C - - BRAF_000077 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat15 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1478A>G r.(?) p.(Gln493Arg) Unknown - VUS g.140477830T>C - BRAF(NM_004333.4):c.1478A>G (p.(Gln493Arg)) - BRAF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490C>T r.(?) p.(Ala497Val) Unknown - VUS g.140477818G>A g.140778018G>A BRAF(NM_004333.6):c.1490C>T (p.A497V) - BRAF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1495A>G r.(?) p.(Lys499Glu) Unknown - pathogenic g.140477813T>C g.140778013T>C - - BRAF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1497A>C r.(?) p.(Lys499Asn) Unknown - pathogenic g.140477811T>G - - - BRAF_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1502A>G r.(?) p.(Glu501Gly) Unknown ACMG pathogenic g.140477806T>C g.140778006T>C - - BRAF_000135 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG blood - CFC1 - - - F - Brazil - - - - - 1 Juliana Mazzeu
?/. - c.1505T>A r.(?) p.(Val502Glu) Unknown - VUS g.140477803A>T g.140778003A>T BRAF(NM_004333.6):c.1505T>A (p.V502E) - BRAF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1513C>T r.(?) p.(Leu505Phe) Parent #1 - pathogenic g.140477795G>A g.140777995G>A - - BRAF_000074 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397507477 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1518-7T>C r.(=) p.(=) Unknown - likely benign g.140476895A>G - BRAF(NM_004333.4):c.1518-7T>C (p.?) - BRAF_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1518_1526dup r.(?) p.(Lys507_Arg509dup) Unknown - likely pathogenic g.140476881_140476889dup g.140777081_140777089dup - - BRAF_000044 - - - - Somatic - - - - - DNA SEQ-NG Brain tissue gene panel ganglioglioma patient14 - - M ? - - - - - - 1 Lisa-Marie Niestroj
+?/. - c.1525C>T r.(?) p.(Arg509*) Unknown ACMG pathogenic g.140476881G>A - - - BRAF_000078 - PubMed: Mendonca 2021 - - Somatic - 0.04 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
?/. - c.1591T>C r.(?) p.(Trp531Arg) Unknown - VUS g.140476815A>G g.140777015A>G - - BRAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1595G>A r.(?) p.(Cys532Tyr) Unknown - pathogenic g.140476811C>T g.140777011C>T - - BRAF_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.1627A>G r.(?) p.(Ile543Val) Unknown - VUS g.140476779T>C - BRAF(NM_004333.6):c.1627A>G (p.I543V) - BRAF_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1657C>T r.(?) p.(Leu553Phe) Unknown - VUS g.140476749G>A - BRAF(NM_004333.6):c.1657C>T (p.L553F) - BRAF_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1673G>A r.(?) p.(Arg558Gln) Unknown - VUS g.140476733C>T g.140776933C>T BRAF(NM_004333.4):c.1673G>A (p.(Arg558Gln)) - BRAF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1685A>T r.(?) p.(Gln562Leu) Unknown - VUS g.140476721T>A - - - BRAF_000114 - - - rs2129018160 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1694+14G>A r.(=) p.(=) Unknown - likely benign g.140476698C>T - BRAF(NM_004333.4):c.1694+14G>A - BRAF_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1695T>A r.(?) p.(Asp565Glu) Unknown ACMG pathogenic g.140454033A>T g.140754233A>T - - BRAF_000112 - - ClinVar-2769805 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. 14 c.1722C>G r.(?) p.(His574Gln) Unknown ACMG likely pathogenic g.140454006G>C g.140754206G>C - - BRAF_000127 - - ClinVar-40384 rs397507481 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
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