"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162794	NM_004333.6(BRAF):c.*7T>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 40399	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 44824	NM_004333.6(BRAF):c.2229T>C (p.Phe743=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 417227	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	LEOPARD syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 44823	NM_004333.6(BRAF):c.2136C>T (p.Ala712=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +10 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 44820	NM_004333.6(BRAF):c.2128-5dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +5 more	GConflicting classifications of pathogenicity
Select item 44821	NM_004333.6(BRAF):c.2128-5del	BRAF	Deletion (intron variant)	RASopathy +5 more	GBenign/Likely benign
Select item 44822	NM_004333.6(BRAF):c.2128-6T>A	BRAF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 44819	NM_004333.6(BRAF):c.2128-10T>C	BRAF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 259289	NM_004333.6(BRAF):c.1993-11dup	BRAF	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
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 162796	NM_004333.6(BRAF):c.1960T>C (p.Leu654=)	BRAF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 40391	NM_004333.6(BRAF):c.1929A>G (p.Gly643=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 162797	NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	BRAF (D638E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
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 44817	NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)	BRAF	Deletion (inframe_indel)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 41446	NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	BRAF (K601Q +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	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 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
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 162793	NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)	BRAF	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 13969	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF (L597V +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +5 more	GPathogenic
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 44814	NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)	BRAF (G596C +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
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 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GConflicting classifications of pathogenicity
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 44812	NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys)	BRAF (E586K +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance OOncogenic
Select item 44811	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF (N581K +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
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 13979	NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	BRAF (N581D +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 44810	NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)	BRAF (H574Y +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic
Select item 40383	NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)	BRAF (D565E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 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 44808	NM_004333.6(BRAF):c.1632T>C (p.Ile544=)	BRAF	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 13980	NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	BRAF (G534R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 40380	NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)	BRAF (C532Y +7 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 40374	NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)	BRAF (E501V +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13978	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF (E501G +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +13 more	GPathogenic/Likely pathogenic
Select item 44807	NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln)	BRAF (E501Q +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 13977	NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	BRAF (E501K +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 503530	NM_004333.6(BRAF):c.1488A>C (p.Gln496His)	BRAF (Q496H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44806	NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)	BRAF (V487G +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +3 more	GPathogenic/Likely pathogenic
Select item 177844	NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13975	NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA 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 pathogenic FDA Recognized database
Select item 177878	NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn)	BRAF (K483N +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GLikely pathogenic
Select item 40369	NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)	BRAF (K483Q +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 44805	NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)	BRAF (A481E +7 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 44804	NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg)	BRAF (T470R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 44802	NM_004333.6(BRAF):c.1405_1407del (p.Gly469del)	BRAF (G469del +7 more)	Deletion (inframe_deletion)	Non-small cell 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)	RASopathy	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 162801	NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter)	BRAF (G469* +7 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 40366	NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	BRAF (F468S +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 13967	NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	BRAF (G466V +7 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +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)	Vascular malformation +1 more	GPathogenic/Likely pathogenic
Select item 40364	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF (G464V +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +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 40363	NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44800	NM_004333.6(BRAF):c.1347T>C (p.Asp449=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 40362	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44799	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	BRAF (V413M +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +8 more	GUncertain significance
Select item 44798	NM_004333.6(BRAF):c.1236C>T (p.Asn412=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 40360	NM_004333.6(BRAF):c.1227A>G (p.Ser409=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 44797	NC_000007.14:g.140783126A>G	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 44796	NM_004333.6(BRAF):c.1203C>T (p.Thr401=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 44795	NC_000007.14:g.140783152T>C	BRAF (T395A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 44794	NM_004333.6(BRAF):c.1084C>A (p.Arg362=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44788	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 162803	NM_004333.6(BRAF):c.1055A>G (p.Asp352Gly)	BRAF, LOC126860202 (D352G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44793	NM_004333.6(BRAF):c.1040G>C (p.Arg347Pro)	BRAF, LOC126860202 (R347P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44834	NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)	BRAF (S323L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 44832	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	BRAF (G265R +4 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 44831	NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	BRAF (Q262P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 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	GPathogenic FDA Recognized database
Select item 40351	NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)	BRAF (Q257K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 44830	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF (F247V +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 13965	NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	BRAF (A246P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 40348	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA 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	GPathogenic FDA Recognized database
Select item 40346	NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)	BRAF (T244P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 44829	NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)	BRAF (T241K +4 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	RASopathy +9 more	GPathogenic/Likely pathogenic
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 44828	NM_004333.6(BRAF):c.714A>T (p.Val238=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 44827	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 505530	NM_004333.6(BRAF):c.653C>G (p.Thr218Ser)	BRAF (T218S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178963	NM_004333.6(BRAF):c.622A>G (p.Ile208Val)	BRAF (I208V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 505161	NM_004333.6(BRAF):c.527C>T (p.Thr176Ile)	BRAF (T176I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44826	NM_004333.6(BRAF):c.483G>C (p.Leu161=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
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 372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 44825	NM_004333.6(BRAF):c.375T>G (p.Ser125=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 505121	NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)	BRAF (G106R +2 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +3 more	GUncertain significance
Select item 162804	NM_004333.6(BRAF):c.111G>A (p.Ser37=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database

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