ClinVar for MedGen (Select 266149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 981606	NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)	RIT1 (D126N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 810771	NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)	MAP2K1 (Y125C)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	Gnot provided
Select item 666425	NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)	MAP2K2 (D271N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 666424	NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)	MAP2K2	Deletion (inframe_deletion)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 666418	NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)	MAP2K1 (Q46L)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 666412	NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr)	BRAF (K483T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 666411	NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro)	BRAF (T470P +1 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 666410	NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del)	BRAF	Deletion (inframe_deletion)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 376176	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	MAP2K2 (N126D)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely 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 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 372572	NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	BRAF (G464R +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic
Select item 359047	NM_004333.6(BRAF):c.2128-28dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +3 more	GConflicting classifications of pathogenicity
Select item 359046	NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT	BRAF	Indel (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 359045	NM_004333.6(BRAF):c.2128-16_2128-15del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 359044	NM_004333.6(BRAF):c.2128-4del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 316850	NM_002755.4(MAP2K1):c.*917del	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 316849	NM_002755.4(MAP2K1):c.*917dup	MAP2K1, SNAPC5	Duplication (3 prime UTR variant +1 more)	Noonan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 316839	NM_002755.4(MAP2K1):c.148_149del	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 316834	NM_002755.4(MAP2K1):c.-220CG[4]	LOC130057340, MAP2K1	Microsatellite (5 prime UTR variant)	Cardio-facio-cutaneous syndrome +2 more	GLikely benign
Select item 308126	NM_004985.5(KRAS):c.-176CGG[4]	KRAS, LOC130007561	Microsatellite (5 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308117	NM_033360.4(KRAS):c.*659del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308104	NM_033360.4(KRAS):c.*1748dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308101	NM_033360.4(KRAS):c.1758_1759del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +2 more	GBenign/Likely benign
Select item 308099	NM_033360.4(KRAS):c.*1777A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308094	NM_033360.4(KRAS):c.*1967del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308090	NM_033360.4(KRAS):c.2391_2392insC	KRAS	Insertion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308089	NM_033360.4(KRAS):c.*2400dup	KRAS	Duplication (3 prime UTR variant)	Noonan syndrome +1 more	GLikely benign
Select item 308083	NM_033360.4(KRAS):c.*2815C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308081	NM_033360.4(KRAS):c.3092_3095del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308069	NM_033360.4(KRAS):c.3803_3804dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308068	NM_033360.4(KRAS):c.*3804dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308067	NM_033360.4(KRAS):c.3875_3878del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308062	NM_033360.4(KRAS):c.4186_4187del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308061	NM_033360.4(KRAS):c.*4187del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 228267	NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp)	KRAS (Y71D)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely pathogenic
Select item 223140	NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	MAP2K1 (K57N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 223139	NM_004333.6(BRAF):c.1408_1410del (p.Thr470del)	BRAF (T470del +7 more)	Deletion (inframe_deletion)	Cardio-facio-cutaneous syndrome	Gnot provided
Select item 223138	NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala)	BRAF (S467A +7 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 181500	NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	PTPN11 (N298S +1 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +8 more	GConflicting classifications of pathogenicity
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 177868	NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)	MAP2K2 (Y134C)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
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 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 163768	NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	KRAS (I36M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 163766	NM_004985.5(KRAS):c.179G>T (p.Gly60Val)	KRAS (G60V)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 163758	NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	KRAS (F156I)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome +3 more	GPathogenic
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 94082	NM_002755.4(MAP2K1):c.694-12TC[4]	MAP2K1	Microsatellite (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 46541	NM_004985.5(KRAS):c.451-5560T>A	KRAS (C180*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 44821	NM_004333.6(BRAF):c.2128-5del	BRAF	Deletion (intron variant)	RASopathy +5 more	GBenign/Likely benign
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 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 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 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 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 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 44588	NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	MAP2K1 (L92R)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 44587	NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)	MAP2K1 (L42F)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 44586	NM_002755.4(MAP2K1):c.1068+12_1068+15del	SNAPC5, MAP2K1	Microsatellite (3 prime UTR variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 41446	NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	BRAF (K601Q +7 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 40813	NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	MAP2K2 (E207K)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic 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 40779	NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	MAP2K1 (K57Q)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 40747	NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	MAP2K1 (Y130H)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic FDA Recognized database
Select item 40744	NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	MAP2K1 (P124L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 40390	NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	BRAF (K601I +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +3 more	GPathogenic/Likely pathogenic
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 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 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 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 40371	NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)	BRAF (K499N +7 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 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 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 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 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 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +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 13980	NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	BRAF (G534R +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +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)	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 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 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 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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