"Database of Curated Mutations (DoCM)"[submitter] AND "BRAF"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376284	NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe)	BRAF (S605F +7 more)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 376283	NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn)	BRAF (S605N +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376287	NM_004333.6(BRAF):c.1801_1803del (p.Lys601del)	BRAF (K601del +7 more)	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 376286	NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)	BRAF (K601N +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 376285	NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn)	BRAF (K601N +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376169	NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg)	BRAF (K601R +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 44818	NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	BRAF (K601T +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 13966	NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	BRAF (K601E +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 376069	NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu)	BRAF (V600E +7 more)	Indel (missense variant)	Melanoma +1 more	GLikely pathogenic
Select item 375939	NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp)	BRAF (V600D +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 376288	NM_004333.6(BRAF):c.1799T>C (p.Val600Ala)	BRAF (V600A +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 375941	NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)	BRAF (V600K +7 more)	Indel (missense variant)	Melanoma +1 more	GConflicting classifications of pathogenicity
Select item 375940	NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)	BRAF (V600R +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 40389	NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)	BRAF (V600G +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +4 more	GPathogenic/Likely pathogenic STier I - Strong
Select item 376289	NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)	BRAF (V600L +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GPathogenic/Likely pathogenic
Select item 44816	NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)	BRAF (V600L +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 44815	NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	BRAF (V600M +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 40388	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	BRAF (T599I +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 375942	NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser)	BRAF (L597S +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 76687	NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)	BRAF (L597Q +7 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +3 more	GPathogenic/Likely pathogenic
Select item 13968	NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)	BRAF (L597R +7 more)	Single nucleotide variant (missense variant)	Melanoma +5 more	GPathogenic/Likely pathogenic
Select item 13969	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF (L597V +7 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GPathogenic
Select item 376375	NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)	BRAF (G596D +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +3 more	GLikely pathogenic
Select item 40387	NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	BRAF (G596V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 376374	NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)	BRAF (G596S +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +3 more	GLikely pathogenic
Select item 375943	NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)	BRAF (G596R +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +5 more	GPathogenic/Likely pathogenic
Select item 180789	NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 177672	NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 376290	NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser)	BRAF (F595S +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 202193	NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +3 more	GPathogenic/Likely pathogenic
Select item 375945	NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu)	BRAF (D594E +7 more)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375944	NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu)	BRAF (D594E +7 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 376070	NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala)	BRAF (D594A +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 375946	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	BRAF (D594V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 375948	NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn)	BRAF (D594N +7 more)	Indel (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375947	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	BRAF (D594H +7 more)	Single nucleotide variant (missense variant)	Melanoma +9 more	GPathogenic/Likely pathogenic
Select item 44813	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF (D594N +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 376291	NM_004333.6(BRAF):c.1776A>G (p.Ile592Met)	BRAF (I592M +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376071	NM_004333.6(BRAF):c.1774A>G (p.Ile592Val)	BRAF (I592V +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376293	NM_004333.6(BRAF):c.1761C>A (p.Asp587Glu)	BRAF (D587E +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376292	NM_004333.6(BRAF):c.1761C>G (p.Asp587Glu)	BRAF (D587E +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376294	NM_004333.6(BRAF):c.1760A>C (p.Asp587Ala)	BRAF (D587A +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 44812	NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys)	BRAF (E586K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376376	NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)	BRAF (N581T +7 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +6 more	GConflicting classifications of pathogenicity
Select item 177776	NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	BRAF (N581S +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 55794	NM_004333.6(BRAF):c.1741A>C (p.Asn581His)	BRAF (N581H +7 more)	Single nucleotide variant (missense variant)	BRAF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 375949	NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys)	BRAF (Y472C +7 more)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 40367	NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	BRAF (V471F +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 376072	NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser)	BRAF (G469S +7 more)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 375950	NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu)	BRAF (G469L +7 more)	Indel (missense variant)	Lung carcinoma	GPathogenic
Select item 44803	NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	BRAF (G469V +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13974	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	BRAF (G469E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 13971	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF (G469A +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 177775	NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GPathogenic/Likely pathogenic
Select item 13970	NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376295	NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)	BRAF (G466A +7 more)	Single nucleotide variant (missense variant)	Melanoma +6 more	GLikely pathogenic
Select item 376073	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	BRAF (G466E +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 13967	NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	BRAF (G466V +7 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +7 more	GPathogenic/Likely pathogenic
Select item 44801	NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	BRAF (G466R +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 40364	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF (G464V +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13964	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	BRAF (G464E +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 372572	NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	BRAF (G464R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 376074	NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp)	BRAF (R444W +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic

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Items: 65