ClinVar for MedGen (Select 462321) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709831	NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)	BRAF (S226T +4 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3	GUncertain significance
Select item 1651604	NM_004333.6(BRAF):c.1432+17_1432+19del	BRAF	Microsatellite (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 1624632	NM_004333.6(BRAF):c.1338G>A (p.Ser446=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GLikely benign
Select item 1593486	NM_004333.6(BRAF):c.1433-18G>A	BRAF	Single nucleotide variant (intron variant)	RASopathy +7 more	GLikely benign
Select item 1569131	NM_004333.6(BRAF):c.298T>C (p.Leu100=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +7 more	GLikely benign
Select item 1554615	NM_004333.6(BRAF):c.1992+15C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +7 more	GLikely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	RASopathy +7 more	GLikely benign
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	Lung cancer +7 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 1410272	NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)	BRAF (I662V +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	Noonan syndrome and Noonan-related syndrome +8 more	GBenign/Likely benign
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 1319116	NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)	BRAF (Y545H +7 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1219871	NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)	BRAF (S35N +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GUncertain significance
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	not specified +9 more	GLikely benign
Select item 1154928	NM_004333.6(BRAF):c.1848C>A (p.Ser616=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +8 more	GLikely benign
Select item 1147384	NM_004333.6(BRAF):c.1719C>A (p.Ile573=)	BRAF	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 3 +7 more	GLikely benign
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiofaciocutaneous syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 1047782	NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)	BRAF (A38P)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +9 more	GUncertain significance
Select item 910632	NM_004333.6(BRAF):c.-56C>T	BRAF, LOC129999507	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 910631	NM_004333.6(BRAF):c.-12C>T	BRAF	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 910577	NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)	LOC126860202, BRAF (D318E +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +3 more	GUncertain significance
Select item 910576	NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)	BRAF, LOC126860202 (Q268E +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 910575	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	BRAF (S342P +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 910515	NM_004333.6(BRAF):c.*124G>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 910514	NM_004333.6(BRAF):c.*143A>G	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 910513	NM_004333.6(BRAF):c.*203A>G	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 909644	NM_004333.6(BRAF):c.1569A>G (p.Pro523=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 909590	NM_004333.6(BRAF):c.*216T>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 908852	NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)	BRAF (R136T +3 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 908790	NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly)	BRAF (E611G +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 704330	NM_004333.6(BRAF):c.1206C>A (p.Pro402=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +9 more	GLikely benign
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer +10 more	GUncertain significance
Select item 561862	NM_004333.6(BRAF):c.1694+13C>T	BRAF	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 561797	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	BRAF (Y647C +7 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GUncertain significance
Select item 543985	NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)	BRAF (G397D +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +3 more	GUncertain significance
Select item 514636	NM_004333.6(BRAF):c.504+19C>T	BRAF	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 1 +8 more	GBenign/Likely benign
Select item 512959	NM_004333.6(BRAF):c.1023A>G (p.Pro341=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 505121	NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)	BRAF (G106R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 503529	NM_004333.6(BRAF):c.469G>A (p.Val157Ile)	BRAF (V157I +2 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +3 more	GUncertain significance
Select item 417227	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 7 +5 more	GConflicting classifications of pathogenicity
Select item 392213	NM_004333.6(BRAF):c.1314+17T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +8 more	GLikely benign
Select item 380268	NM_004333.6(BRAF):c.1860+16A>G	BRAF	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 359049	NM_004333.6(BRAF):c.981-14C>A	BRAF, LOC126860202	Single nucleotide variant (intron variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 359048	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	BRAF, LOC126860202 (I342V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significanceFDA Recognized database
Select item 359043	NM_004333.6(BRAF):c.*3C>T	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 359042	NM_004333.6(BRAF):c.*111C>T	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GBenign/Likely benign
Select item 359041	NM_004333.6(BRAF):c.*387G>A	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GBenign
Select item 180783	NM_004333.6(BRAF):c.240+18A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +8 more	GBenign/Likely benign
Select item 180780	NM_004333.6(BRAF):c.981-20C>T	BRAF, LOC126860202	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 180764	NM_004333.6(BRAF):c.712-18T>C	BRAF	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 162795	NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	BRAF (A712D +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +8 more	GPathogenic/Likely pathogenic
Select item 162794	NM_004333.6(BRAF):c.*7T>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GLikely benignFDA Recognized database
Select item 136536	NM_004333.6(BRAF):c.-5A>G	BRAF	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 136531	NM_004333.6(BRAF):c.1141-19C>T	BRAF	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 133720	NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	BRAF (E24D)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 44827	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 44825	NM_004333.6(BRAF):c.375T>G (p.Ser125=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenignFDA Recognized database
Select item 44823	NM_004333.6(BRAF):c.2136C>T (p.Ala712=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiofaciocutaneous syndrome 1 +10 more	GBenign/Likely benign
Select item 44811	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF (N581K +7 more)	Single nucleotide variant (missense variant)	Lung carcinoma +6 more	GPathogenic/Likely pathogenic
Select item 44809	NM_004333.6(BRAF):c.1694+14G>A	BRAF	Single nucleotide variant (intron variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 44799	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	BRAF (V413M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 44788	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 41447	NM_004333.6(BRAF):c.2127+3A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GBenignFDA Recognized database
Select item 41445	NM_004333.6(BRAF):c.-19C>T	BRAF	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 40399	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenignFDA Recognized database
Select item 40393	NM_004333.6(BRAF):c.1992+16G>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +9 more	GBenign/Likely benign
Select item 40391	NM_004333.6(BRAF):c.1929A>G (p.Gly643=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 40370	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF (L485S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenicFDA Recognized database
Select item 40363	NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 40362	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 40361	NM_004333.6(BRAF):c.1315-18T>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +9 more	GBenign
Select item 40360	NM_004333.6(BRAF):c.1227A>G (p.Ser409=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenignFDA Recognized database
Select item 40347	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenicFDA Recognized database
Select item 40342	NM_004333.6(BRAF):c.399A>G (p.Ser133=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 40337	NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)	BRAF (E26D)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +7 more	GBenign/Likely benign
Select item 40335	NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)	BRAF (D22N)	Single nucleotide variant (missense variant)	RASopathy	GBenignFDA Recognized database
Select item 40333	NM_004333.6(BRAF):c.36G>A (p.Ala12=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +7 more	GPathogenic/Likely pathogenic
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome +9 more	GPathogenic/Likely pathogenic
Select item 13981	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF (D638E +7 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 13976	NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	BRAF (K499E +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 13973	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	BRAF (Q257R +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenicFDA Recognized database

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Items: 85