Unique variants in gene BRAF

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

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-5A>G likely benign r.(?) p.(=) g.140624508T>C - - - BRAF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.64G>A VUS, likely benign r.(?) p.(Asp22Asn) g.140624440C>T - BRAF(NM_004333.4):c.64G>A (p.D22N) - BRAF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.78G>T benign r.(?) p.(Glu26Asp) g.140624426C>A - BRAF(NM_004333.4):c.78G>T (p.E26D) - BRAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.95_100dup likely benign r.(?) p.(Gly32_Ala33dup) g.140624420_140624425dup - BRAF(NM_004333.4):c.100_101insGCGCCG (p.(Gly32_Ala33dup)) - BRAF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.113C>T VUS r.(?) p.(Ala38Val) g.140624391G>A - BRAF(NM_004333.4):c.113C>T (p.A38V) - BRAF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.139-12A>C likely benign r.(=) p.(=) g.140550024T>G - - - BRAF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.240+18A>G likely benign r.(=) p.(=) g.140549893T>C - BRAF(NM_004333.4):c.240+18A>G - BRAF_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.357C>T likely benign r.(?) p.(=) g.140534556G>A - BRAF(NM_004333.4):c.357C>T (p.T119=, p.(=)) - BRAF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 2 - c.722C>T pathogenic r.(?) p.(Thr241Met) g.140501350G>A - BRAF(NM_004333.4):c.722C>T (p.T241M) - BRAF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
+?/. 1 - c.741T>G likely pathogenic r.(?) p.(Phe247Leu) g.140501331A>C - - - BRAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.769C>A pathogenic r.(?) p.(Gln257Lys) g.140501303G>T - - - BRAF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 6 c.770A>G pathogenic r.(?), r.?= p.(Gln257Arg) g.140501302T>C g.140801502T>C - - BRAF_000002 VKGL data sharing initiative Nederland PubMed: Joyce 2016 - - CLASSIFICATION record, De novo - - - - - VKGL-NL, Pia Ostergaard
?/. 1 - c.778C>G VUS r.(?) p.(Arg260Gly) g.140501294G>C - - - BRAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.785A>C likely pathogenic r.(?) p.(Gln262Pro) g.140501287T>G - - - BRAF_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.837G>A likely benign r.(?) p.(Met279Ile) g.140501235C>T - BRAF(NM_004333.4):c.837G>A (p.(Met279Ile)) - BRAF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1002G>A likely benign r.(?) p.(=) g.140494246C>T - BRAF(NM_004333.4):c.1002G>A (p.P334=) - BRAF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1021C>G VUS r.(?) p.(Pro341Ala) g.140494227G>C - BRAF(NM_001354609.2):c.1021C>G (p.P341A) - BRAF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1024A>G likely benign r.(?) p.(Ile342Val) g.140494224T>C - BRAF(NM_004333.4):c.1024A>G (p.I342V) - BRAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1058A>G ACMG: 3 r.(?) p.His353Arg g.140494190T>C - - - BRAF_000070 ACMG grading: PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.1085G>A likely pathogenic r.(?) p.(Arg362Gln) g.140494163C>T - - - BRAF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1150A>G likely benign r.(?) p.(Arg384Gly) g.140487375T>C - - - BRAF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1227A>G likely benign, benign r.(?) p.(=) g.140482908T>C - BRAF(NM_004333.4):c.1227A>G (p.S409=) - BRAF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.1315-18T>G benign r.(=) p.(=) g.140481511A>C - BRAF(NM_004333.4):c.1315-18T>G - BRAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.1332G>A likely benign r.(?) p.(=) g.140481476C>T - BRAF(NM_004333.4):c.1332G>A (p.R444=) - BRAF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1383A>G benign r.(?) p.(=) g.140481425T>C - - - BRAF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1390G>A pathogenic r.(?) p.(Gly464Arg) g.140481418C>T - - - BRAF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1391G>T pathogenic r.(?) p.(Gly464Val) g.140481417C>A - - - BRAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1429C>T likely benign r.(?) p.(His477Tyr) g.140481379G>A - BRAF(NM_004333.4):c.1429C>T (p.(His477Tyr)) - BRAF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1433-19A>G likely benign r.(=) p.(=) g.140477894T>C - BRAF(NM_004333.4):c.1433-19A>G - BRAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1490C>T VUS r.(?) p.(Ala497Val) g.140477818G>A - BRAF(NM_004333.4):c.1490C>T (p.A497V) - BRAF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1495A>G pathogenic r.(?) p.(Lys499Glu) g.140477813T>C - - - BRAF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1505T>A VUS r.(?) p.(Val502Glu) g.140477803A>T - BRAF(NM_004333.4):c.1505T>A (p.V502E) - BRAF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1518_1526dup likely pathogenic r.(?) p.(Lys507_Arg509dup) g.140476880_140476888dup g.140777080_140777088dup - - BRAF_000044 - - - - Somatic - - - - - Lisa-Marie Niestroj
?/. 1 - c.1591T>C VUS r.(?) p.(Trp531Arg) g.140476815A>G - - - BRAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.1595G>A - - - g.140476811C>T g.140777011C>T - - BRAF_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1729C>A likely pathogenic r.(?) p.(Leu577Ile) g.140453999G>T - - - BRAF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1741A>G pathogenic r.(?) p.(Asn581Asp) g.140453987T>C - BRAF(NM_004333.4):c.1741A>G (p.N581D) - BRAF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
+?/. 1 - c.1743T>G likely pathogenic r.(?) p.(Asn581Lys) g.140453192A>C - - - BRAF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1781A>T pathogenic r.(?) p.(Asp594Val) g.140453154T>A - - - BRAF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1787G>T pathogenic r.(?) p.(Gly596Val) g.140453148C>A - - - BRAF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 7 0 c.1799T>A likely pathogenic r.(?), r.(=) p.(Val600Glu) g.140453136A>T g.140753336A>T - - BRAF_000001 - - - - Somatic, Germline - - - - - Phil Chambers, Andreas Laner, Lisa-Marie Niestroj
./. 1 - c.1802A>T - - - g.140453133T>A g.140753333T>A - - BRAF_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1861-7C>G likely benign r.(=) p.(=) g.140449225G>C - - - BRAF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1897T>C VUS r.(?) p.(Tyr633His) g.140449182A>G - - - BRAF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1914T>G pathogenic r.(?) p.(Asp638Glu) g.140449165A>C - BRAF(NM_004333.4):c.1914T>G (p.D638E) - BRAF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-/. 1 - c.1929A>G benign r.(?) p.(=) g.140449150T>C - BRAF(NM_004333.4):c.1929A>G (p.G643=) - BRAF_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1957C>T VUS r.(?) p.(Gln653*) g.140449122G>A - BRAF(NM_004333.4):c.1957C>T (p.Q653*) - BRAF_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1992+16G>C benign r.(=) p.(=) g.140449071C>G - BRAF(NM_004333.4):c.1992+16G>C - BRAF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1993-10dup benign r.(=) p.(=) g.140439756dup - BRAF(NM_004333.4):c.1993-10dupC - BRAF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2128-27_2128-18del benign r.(=) p.(=) g.140434604_140434613del - BRAF(NM_004333.4):c.2128-27_2128-18delCTTTTTTTTT - BRAF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2128-23_2128-17dup likely benign r.(=) p.(=) g.140434590_140434596dup - BRAF(NM_004333.4):c.2128-23_2128-17dupTTTTTTT - BRAF_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2128-17dup benign r.(=) p.(=) g.140434596dup - BRAF(NM_004333.4):c.2128-17dupT - BRAF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT likely benign r.(=) p.(=) g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAA - BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT - BRAF_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT likely benign r.(=) p.(=) g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAAA - BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT - BRAF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2128-5del benign r.spl? p.? g.140434585del - BRAF(NM_004333.4):c.2128-5delT - BRAF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/., -/. 3 - c.2128-5dup likely benign, benign r.spl? p.? g.140434585dup - BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT - BRAF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT likely benign r.spl? p.? g.140434585_140434586insAAAAAAAAAAAAAAAAAAAA - BRAF(NM_004333.4):c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT - BRAF_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2128-4G>T likely benign r.spl? p.? g.140434574C>A - BRAF(NM_004333.4):c.2128-4G>T - BRAF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2156G>A VUS r.(?) p.(Arg719His) g.140434542C>T - - - BRAF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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