MAP2K1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 561817	NM_001398281.1(TIPIN):c.-9+69T>G	LOC130057338, MAP2K1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561873	NM_001398281.1(TIPIN):c.-12T>A	LOC130057338, MAP2K1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 561875	NM_001398281.1(TIPIN):c.-76G>A	MAP2K1, TIPIN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2645466	NC_000015.10:g.66386730G>A	MAP2K1	Single nucleotide variant	not provided	GBenign
Select item 2645467	NC_000015.10:g.66386775C>T	MAP2K1	Single nucleotide variant	not provided	GUncertain significance
Select item 561386	NM_002755.3(MAP2K1):c.-547C>T	MAP2K1	Single nucleotide variant	not provided	GLikely benign
Select item 316831	NM_002755.3(MAP2K1):c.-448C>T	LOC130057339, MAP2K1	Single nucleotide variant	not provided	GLikely benign
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 1189560	NM_002755.4(MAP2K1):c.-105_-99dup	LOC130057340, MAP2K1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1286889	NM_002755.4(MAP2K1):c.-85G>C	LOC130057340, MAP2K1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1321004	NM_002755.4(MAP2K1):c.-43C>T	LOC130057340, MAP2K1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 1995374	NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg)	MAP2K1 (P2R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1923833	NM_002755.4(MAP2K1):c.6C>G (p.Pro2=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 40739	NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 2645468	NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 496174	NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg)	MAP2K1 (K4R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 705062	NM_002755.4(MAP2K1):c.12G>A (p.Lys4=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2631331	NM_002755.4(MAP2K1):c.15G>T (p.Lys5Asn)	MAP2K1 (K5N)	Single nucleotide variant (missense variant)	MAP2K1-related condition	GUncertain significance
Select item 1343560	NM_002755.4(MAP2K1):c.15G>A (p.Lys5=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 929218	NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu)	MAP2K1 (Q10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2704008	NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val)	MAP2K1 (L11V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2160466	NM_002755.4(MAP2K1):c.33G>A (p.Leu11=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1210586	NM_002755.4(MAP2K1):c.36C>T (p.Asn12=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444653	NM_002755.4(MAP2K1):c.37C>T (p.Pro13Ser)	MAP2K1 (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2913558	NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val)	MAP2K1 (A14V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 591639	NM_002755.4(MAP2K1):c.45del (p.Asp16fs)	MAP2K1 (D16fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1317064	NM_002755.4(MAP2K1):c.42C>G (p.Ala14=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1740302	NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)	MAP2K1 (P15A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1513991	NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser)	MAP2K1 (P15S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1741790	NM_002755.4(MAP2K1):c.45C>T (p.Pro15=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1005276	NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu)	MAP2K1 (D16E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 807276	NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys)	MAP2K1 (S18C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2878137	NM_002755.4(MAP2K1):c.63C>T (p.Asn21=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2976418	NM_002755.4(MAP2K1):c.69C>A (p.Thr23=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 964053	NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly)	MAP2K1 (S24G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 854814	NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr)	MAP2K1 (S24T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1317376	NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr)	MAP2K1 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419481	NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val)	MAP2K1 (A26V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2709627	NM_002755.4(MAP2K1):c.80+2T>C	MAP2K1	Single nucleotide variant (splice donor variant)	RASopathy	GUncertain significance
Select item 2857741	NM_002755.4(MAP2K1):c.80+6T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 1130747	NM_002755.4(MAP2K1):c.80+9G>A	MAP2K1	Single nucleotide variant (intron variant)	MAP2K1-related condition +1 more	GLikely benign
Select item 385739	NM_002755.4(MAP2K1):c.80+14G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023254	NM_002755.4(MAP2K1):c.80+16G>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1918867	NM_002755.4(MAP2K1):c.80+18_80+19del	MAP2K1	Deletion (intron variant)	RASopathy	GLikely benign
Select item 1270545	NM_002755.4(MAP2K1):c.80+28G>C	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242993	NM_002755.4(MAP2K1):c.80+33C>G	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40775	NM_002755.4(MAP2K1):c.80+33C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252321	NM_002755.4(MAP2K1):c.80+54G>C	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250710	NM_002755.4(MAP2K1):c.80+85del	MAP2K1	Deletion (intron variant)	not provided	GBenign
Select item 1291296	NM_002755.4(MAP2K1):c.80+87del	MAP2K1	Deletion (intron variant)	not provided	GBenign
Select item 1296260	NM_002755.4(MAP2K1):c.80+195del	MAP2K1	Deletion (intron variant)	not provided	GBenign
Select item 1623255	NM_002755.4(MAP2K1):c.81-20T>G	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3011599	NM_002755.4(MAP2K1):c.81-13del	MAP2K1	Deletion (intron variant)	RASopathy	GBenign
Select item 2202634	NM_002755.4(MAP2K1):c.81-13C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2731711	NM_002755.4(MAP2K1):c.81-12A>G	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2702394	NM_002755.4(MAP2K1):c.81-7G>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2708327	NM_002755.4(MAP2K1):c.81G>A (p.Glu27=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2045953	NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser)	MAP2K1 (N29S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2882452	NM_002755.4(MAP2K1):c.87C>T (p.Asn29=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1767521	NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)	MAP2K1 (A10V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2730799	NM_002755.4(MAP2K1):c.96C>T (p.Ala32=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2040290	NM_002755.4(MAP2K1):c.99G>A (p.Leu33=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 751904	NM_002755.4(MAP2K1):c.108G>A (p.Lys36=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 44587	NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)	MAP2K1 (L42F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1723651	NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg)	MAP2K1 (L20R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 477666	NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del)	MAP2K1 (D43del)	Microsatellite (inframe_deletion)	RASopathy	GUncertain significance
Select item 1429014	NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del)	MAP2K1	Deletion (inframe_deletion)	RASopathy	GUncertain significance
Select item 1693032	NM_002755.4(MAP2K1):c.135G>T (p.Gln45His)	MAP2K1 (Q45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2697502	NM_002755.4(MAP2K1):c.138del (p.Gln46fs)	MAP2K1 (Q24fs +1 more)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 2697509	NM_002755.4(MAP2K1):c.139C>A (p.Arg47=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2430928	NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter)	MAP2K1 (R25* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 633293	NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln)	MAP2K1 (R47Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2185892	NM_002755.4(MAP2K1):c.146G>A (p.Arg49His)	MAP2K1 (R27H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1634020	NM_002755.4(MAP2K1):c.147C>A (p.Arg49=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1206943	NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro)	MAP2K1 (L50P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1996699	NM_002755.4(MAP2K1):c.153G>A (p.Glu51=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3066213	NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr)	MAP2K1 (A30T +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 507455	NM_002755.4(MAP2K1):c.156C>G (p.Ala52=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 376447	NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile)	MAP2K1 (F53I)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 376446	NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val)	MAP2K1 (F53V)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 375977	NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu)	MAP2K1 (F53L)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 13350	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	MAP2K1 (F53S)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 376445	NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu)	MAP2K1 (F53L)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 1506502	NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro)	MAP2K1 (L54P)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 2672091	NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del)	MAP2K1	Deletion (inframe_deletion)	Vascular malformation	GLikely pathogenic
Select item 375978	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	MAP2K1 (Q56P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376173	NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu)	MAP2K1 (K57E)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
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 1708637	NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met)	MAP2K1 (K35M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376448	NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)	MAP2K1 (K57T)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +5 more	GLikely pathogenic
Select item 376174	NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)	MAP2K1 (K57N)	Single nucleotide variant (missense variant)	Melanoma +6 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

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