ClinVar for MedGen (Select 852267) - ClinVar

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Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220902	NM_004333.6(BRAF):c.1749T>G (p.Phe583Leu)	BRAF (F583L +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 1804940	NM_004333.6(BRAF):c.160A>G (p.Ile54Val)	BRAF (I2V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1	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)	LEOPARD syndrome 3 +7 more	GLikely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +7 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	RASopathy +8 more	GBenign/Likely benign
Select item 1325840	NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)	BRAF (L397W +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GPathogenic
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	not provided +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)	LEOPARD syndrome 3 +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)	RASopathy +8 more	GUncertain significance
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	Noonan syndrome 1 +8 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)	Colorectal cancer +7 more	GLikely benign
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	not provided +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)	RASopathy +8 more	GUncertain significance
Select item 977327	NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe)	BRAF (S519F +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976167	NM_004333.6(BRAF):c.1475_1477del (p.Pro492del)	BRAF (P404del +7 more)	Deletion (inframe_deletion)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 931893	NM_004333.6(BRAF):c.789_790del (p.Cys264fs)	BRAF (C230fs +4 more)	Deletion (frameshift variant)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 931837	NM_004333.6(BRAF):c.712-221T>C	BRAF	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 931305	NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe)	BRAF (L294F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 930444	NM_004333.6(BRAF):c.67A>G (p.Met23Val)	BRAF (M23V)	Single nucleotide variant (missense variant)	RASopathy +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)	LEOPARD syndrome 3 +7 more	GUncertain significance
Select item 802377	NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)	BRAF (S215F)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 802376	NM_004333.6(BRAF):c.779G>A (p.Arg260His)	BRAF (R260H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802375	NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)	BRAF (R477Q +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 802374	NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)	BRAF (L624F +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 802373	NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)	BRAF (A752T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802372	NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)	BRAF (G799E +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 704330	NM_004333.6(BRAF):c.1206C>A (p.Pro402=)	BRAF	Single nucleotide variant (synonymous variant)	not provided +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)	RASopathy +10 more	GUncertain significance
Select item 571464	NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)	BRAF (E13D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 561862	NM_004333.6(BRAF):c.1694+13C>T	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +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)	Lung carcinoma +6 more	GUncertain significance
Select item 561696	NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)	BRAF (P731S +7 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 547184	NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg)	BRAF (Q461R +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	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 520890	NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)	BRAF (L525Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 514636	NM_004333.6(BRAF):c.504+19C>T	BRAF	Single nucleotide variant (intron variant)	Lung cancer +8 more	GBenign/Likely benign
Select item 392213	NM_004333.6(BRAF):c.1314+17T>C	BRAF	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 380268	NM_004333.6(BRAF):c.1860+16A>G	BRAF	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
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 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +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)	Lung carcinoma +7 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 significance FDA Recognized database
Select item 280033	NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	BRAF (T599R +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 202193	NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 180784	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 180783	NM_004333.6(BRAF):c.240+18A>G	BRAF	Single nucleotide variant (intron variant)	not specified +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)	Colorectal cancer +8 more	GBenign/Likely benign
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 163768	NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	KRAS (I36M)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +5 more	GPathogenic/Likely pathogenic
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 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 136531	NM_004333.6(BRAF):c.1141-19C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +8 more	GBenign/Likely benign
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 44818	NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	BRAF (K601T +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
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 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 44799	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	BRAF (V413M +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 1 +8 more	GUncertain significance
Select item 41447	NM_004333.6(BRAF):c.2127+3A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40781	NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	MAP2K1 (D67N)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 40769	NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	MAP2K2 (K61E)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
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 40390	NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	BRAF (K601I +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely 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 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 40384	NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	BRAF (H574Q +7 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 40379	NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu)	BRAF (W531L +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
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 40373	NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	BRAF (E501A +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 40372	NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)	BRAF (K499N +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GPathogenic
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 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 40365	NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)	BRAF (G464A +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 40364	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF (G464V +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic/Likely pathogenic
Select item 40361	NM_004333.6(BRAF):c.1315-18T>G	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +9 more	GBenign
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 40342	NM_004333.6(BRAF):c.399A>G (p.Ser133=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +10 more	GBenign/Likely benign
Select item 40337	NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)	BRAF (E26D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
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)	RASopathy +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)	LEOPARD syndrome 3 +7 more	GPathogenic/Likely pathogenic
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 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 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 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 13976	NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	BRAF (K499E +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +3 more	GPathogenic/Likely pathogenic
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 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 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 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

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Items: 98