Related gene-specific medical variations for Gene (Select 5604) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3577610	NM_002755.4(MAP2K1):c.*17A>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiofaciocutaneous syndrome 3 +1 more	GUncertain significance
Select item 3577609	NM_002755.4(MAP2K1):c.1166A>G (p.His389Arg)	MAP2K1, SNAPC5 (H341R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiofaciocutaneous syndrome 3 +1 more	GUncertain significance
Select item 3577608	NM_002755.4(MAP2K1):c.1068+5G>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiofaciocutaneous syndrome 3 +1 more	GUncertain significance
Select item 3577607	NM_002755.4(MAP2K1):c.893G>C (p.Ser298Thr)	MAP2K1 (S250T +1 more)	Single nucleotide variant (missense variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577606	NM_002755.4(MAP2K1):c.568+2T>C	MAP2K1	Single nucleotide variant (splice donor variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577604	NM_002755.4(MAP2K1):c.528C>T (p.Gly176=)	MAP2K1	Single nucleotide variant (synonymous variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577603	NM_002755.4(MAP2K1):c.510C>T (p.Ser170=)	MAP2K1	Single nucleotide variant (synonymous variant +1 more)	Melorheostosis +1 more	GUncertain significance
Select item 3577602	NM_002755.4(MAP2K1):c.439-19C>G	MAP2K1	Single nucleotide variant (intron variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577601	NM_002755.4(MAP2K1):c.428T>C (p.Met143Thr)	MAP2K1 (M121T +1 more)	Single nucleotide variant (missense variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577600	NM_002755.4(MAP2K1):c.427A>C (p.Met143Leu)	MAP2K1 (M121L +1 more)	Single nucleotide variant (missense variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577599	NM_002755.4(MAP2K1):c.200A>G (p.Asp67Gly)	MAP2K1 (D45G +1 more)	Single nucleotide variant (missense variant)	Melorheostosis +1 more	GLikely pathogenic
Select item 3577598	NM_002755.4(MAP2K1):c.80+5G>A	MAP2K1	Single nucleotide variant (intron variant)	Melorheostosis +1 more	GUncertain significance
Select item 3577597	NM_002755.4(MAP2K1):c.-7G>A	MAP2K1	Single nucleotide variant (5 prime UTR variant)	Melorheostosis +1 more	GUncertain significance
Select item 3542700	NM_002755.4(MAP2K1):c.1161A>C (p.Pro387=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3542699	NM_002755.4(MAP2K1):c.1170T>G (p.Ala390=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3542698	NM_002755.4(MAP2K1):c.1152del (p.Ser385fs)	MAP2K1, SNAPC5 (S337fs +1 more)	Deletion (3 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3343301	NM_002755.4(MAP2K1):c.1180_1181dup (p.Ter394TyrextTer?)	MAP2K1, SNAPC5	Duplication (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3292965	NM_002755.4(MAP2K1):c.1091C>A (p.Ser364Tyr)	MAP2K1, SNAPC5 (S316Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3243834	NC_000015.9:g.(?_66679686)_(66729250_?)dup	MAP2K1	Duplication	RASopathy	GUncertain significance
Select item 3243833	NC_000015.9:g.(?_66736974)_(66737065_?)dup	MAP2K1	Duplication	RASopathy	GUncertain significance
Select item 3237379	NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)	MAP2K1 (I168V +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 2997336	NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)	MAP2K1, SNAPC5 (F323L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2967006	NM_002755.4(MAP2K1):c.1069-6A>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2893312	NM_002755.4(MAP2K1):c.1107G>A (p.Val369=)	MAP2K1, SNAPC5	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GLikely benign
Select item 2891616	NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2888506	NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly)	MAP2K1, SNAPC5 (S337G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2884338	NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)	MAP2K1, SNAPC5 (T338I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2848760	NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2836006	NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)	MAP2K1, SNAPC5 (D303E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2816225	NM_002755.4(MAP2K1):c.1069-7del	SNAPC5, MAP2K1	Deletion (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2791786	NM_002755.4(MAP2K1):c.1069-8A>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2781425	NM_002755.4(MAP2K1):c.1069-3C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2770394	NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)	MAP2K1, SNAPC5 (L304V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2762237	NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2706922	NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2672091	NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del)	MAP2K1	Deletion (inframe_deletion)	Vascular malformation	GLikely pathogenic
Select item 2645472	NM_002755.4(MAP2K1):c.*63C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2571919	NM_002755.4(MAP2K1):c.1068_1068+1delinsCA	MAP2K1, SNAPC5	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2565492	NM_002755.4(MAP2K1):c.1134C>T (p.Thr378=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2565491	NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)	MAP2K1, SNAPC5 (M308T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2501899	NM_002755.4(MAP2K1):c.1081_1084delinsG (p.Ile361_Lys362delinsGlu)	MAP2K1, SNAPC5	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2413054	NM_002755.4(MAP2K1):c.1091C>T (p.Ser364Phe)	MAP2K1, SNAPC5 (S316F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2319773	NM_002755.4(MAP2K1):c.1146C>A (p.Asn382Lys)	MAP2K1, SNAPC5 (N334K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2133334	NM_002755.4(MAP2K1):c.1086G>A (p.Lys362=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1978836	NM_002755.4(MAP2K1):c.1143T>A (p.Leu381=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1978835	NM_002755.4(MAP2K1):c.1069-11C>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1963559	NM_002755.4(MAP2K1):c.1110T>C (p.Asp370=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1902241	NM_002755.4(MAP2K1):c.1069-12C>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1797130	NM_002755.4(MAP2K1):c.1119T>C (p.Gly373=)	SNAPC5, MAP2K1	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1778632	NM_002755.4(MAP2K1):c.1056G>A (p.Leu352=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1626003	NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1613726	NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1610157	NM_002755.4(MAP2K1):c.1068+17C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1587367	NM_002755.4(MAP2K1):c.1068+13_1068+15del	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1576514	NM_002755.4(MAP2K1):c.1069-17C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 1334255	NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser)	MAP2K1, SNAPC5 (G380S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 1334254	NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe)	MAP2K1, SNAPC5 (S377F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 1326437	NM_002755.4(MAP2K1):c.1115C>T (p.Ala372Val)	MAP2K1, SNAPC5 (A372V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +1 more	GUncertain significance
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 1318561	NM_002755.4(MAP2K1):c.1069-142C>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	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 1259846	NM_002755.4(MAP2K1):c.*50G>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1257472	NM_002755.4(MAP2K1):c.*308C>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1245180	NM_002755.4(MAP2K1):c.1069-144C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1239027	NM_002755.4(MAP2K1):c.1069-113C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1214837	NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile)	MAP2K1, SNAPC5 (V393I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Melorheostosis +3 more	GConflicting classifications of pathogenicity
Select item 1202855	NM_002755.4(MAP2K1):c.1069-145C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 974990	NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 950974	NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?)	MAP2K1, SNAPC5	Duplication (3 prime UTR variant +3 more)	RASopathy	GUncertain significance
Select item 918091	NM_002755.4(MAP2K1):c.1069-16G>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 917701	NM_002755.4(MAP2K1):c.1068+19G>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 666422	NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)	MAP2K1, SNAPC5 (H358Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 666421	NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)	MAP2K1 (R291K)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 666420	NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)	MAP2K1 (P193A)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 666419	NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)	MAP2K1 (R108W)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
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 659397	NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val)	MAP2K1, SNAPC5 (I379V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +3 more	GUncertain significance
Select item 659036	NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?)	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +3 more)	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 561441	NM_002755.4(MAP2K1):c.1068+159C>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 543994	NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile)	MAP2K1, SNAPC5 (L375I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GLikely benign
Select item 448949	NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benignFDA Recognized database
Select item 378102	NM_002755.4(MAP2K1):c.1068+18G>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 372936	NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val)	MAP2K1, SNAPC5 (M356V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GUncertain significance
Select item 372567	NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val)	MAP2K1, SNAPC5 (A391V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 180900	NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr)	MAP2K1, SNAPC5 (A390T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180895	NM_002755.4(MAP2K1):c.1068+9A>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benignFDA Recognized database
Select item 44586	NM_002755.4(MAP2K1):c.1068+12_1068+15del	MAP2K1, SNAPC5	Microsatellite (3 prime UTR variant +2 more)	RASopathy	GBenignFDA 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	GBenignFDA Recognized database
Select item 40761	NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His)	MAP2K1, SNAPC5 (Q354H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +2 more	GUncertain significance
Select item 40710	NM_002755.4(MAP2K1):c.-31dup	LOC130057340, MAP2K1	Duplication	not specified	GBenign

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Items: 96