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

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40710	NM_002755.4(MAP2K1):c.-31dup	LOC130057340, MAP2K1	Duplication	not specified	GBenign
Select item 40738	NM_002755.4(MAP2K1):c.-2A>G	MAP2K1	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign
Select item 40739	NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)	MAP2K1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 227537	NM_002755.4(MAP2K1):c.39G>A (p.Pro13=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 177942	NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly)	MAP2K1 (A19G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 138155	NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign 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 40778	NM_002755.4(MAP2K1):c.156C>T (p.Ala52=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 375978	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	MAP2K1 (Q56P)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GPathogenic
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 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 40782	NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 503541	NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg)	MAP2K1 (K84R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 667260	NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg)	MAP2K1 (K88R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 227536	NM_002755.4(MAP2K1):c.292-4C>G	MAP2K1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 216570	NM_002755.4(MAP2K1):c.292-3C>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44589	NM_002755.4(MAP2K1):c.315C>T (p.Pro105=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 179368	NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln)	MAP2K1 (R108Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 228273	NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	MAP2K1 (N122D)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic 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 13352	NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	MAP2K1 (G128V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GPathogenic/Likely pathogenic
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 13351	NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	MAP2K1 (Y130C)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 40751	NM_002755.4(MAP2K1):c.439-8G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 180902	NM_002755.4(MAP2K1):c.568+1G>A	MAP2K1	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 517177	NM_002755.4(MAP2K1):c.569-8C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 179898	NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile)	MAP2K1 (V211I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44590	NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 94082	NM_002755.4(MAP2K1):c.694-12TC[4]	MAP2K1	Microsatellite (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40754	NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44591	NM_002755.4(MAP2K1):c.726G>T (p.Val242=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 228847	NM_002755.4(MAP2K1):c.729G>T (p.Gln243His)	MAP2K1 (Q243H)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 228848	NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val)	MAP2K1 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44592	NM_002755.4(MAP2K1):c.804C>G (p.Ala268=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40756	NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)	MAP2K1 (A283V)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 503539	NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile)	MAP2K1 (T292I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44593	NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser)	MAP2K1 (T292S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 44594	NM_002755.4(MAP2K1):c.879C>T (p.Pro293=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 40758	NM_002755.4(MAP2K1):c.927A>T (p.Ala309=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 503540	NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe)	MAP2K1 (L313F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 50934	NM_002755.4(MAP2K1):c.957C>T (p.Asn319=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 44585	NM_002755.4(MAP2K1):c.1022+10C>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 40760	NM_002755.4(MAP2K1):c.1023-8C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 228846	NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr)	MAP2K1 (A347T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
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 40762	NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GBenign FDA Recognized database

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Items: 47