15484[HGNC] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
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 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 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 40761	NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His)	SNAPC5, MAP2K1 (Q354H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
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 2565491	NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)	MAP2K1, SNAPC5 (M308T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +1 more	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 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 180895	NM_002755.4(MAP2K1):c.1068+9A>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign FDA Recognized database
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2816225	NM_002755.4(MAP2K1):c.1069-7del	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +2 more)	RASopathy	GLikely benign
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 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 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 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 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 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 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 448949	NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign FDA Recognized database
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 2893312	NM_002755.4(MAP2K1):c.1107G>A (p.Val369=)	SNAPC5, MAP2K1	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 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 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 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 1797130	NM_002755.4(MAP2K1):c.1119T>C (p.Gly373=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype	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)	RASopathy +2 more	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)	RASopathy +1 more	GLikely benign
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)	RASopathy +1 more	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 659397	NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val)	MAP2K1, SNAPC5 (I379V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
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
Select item 1334255	NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser)	SNAPC5, MAP2K1 (G380S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +1 more	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 1626003	NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy +1 more	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 375984	NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His)	MAP2K1, SNAPC5 (N382H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Melanoma	GPathogenic
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 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 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 180900	NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr)	MAP2K1, SNAPC5 (A390T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MAP2K1-related disorder +2 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GConflicting classifications of pathogenicity
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 1214837	NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile)	MAP2K1, SNAPC5 (V393I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 659036	NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?)	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +3 more)	RASopathy	GUncertain significance
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 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 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 1257472	NM_002755.4(MAP2K1):c.*308C>A	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 316850	NM_002755.4(MAP2K1):c.*917del	SNAPC5, MAP2K1	Deletion (3 prime UTR variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 2478212	NM_001329615.2(SNAPC5):c.276G>T (p.Glu92Asp)	SNAPC5 (E92D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364076	NM_001329615.2(SNAPC5):c.254C>T (p.Thr85Met)	SNAPC5 (T47M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207880	NM_001329615.2(SNAPC5):c.223A>G (p.Thr75Ala)	SNAPC5 (T75A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2552916	NM_001329615.2(SNAPC5):c.218A>G (p.Gln73Arg)	SNAPC5 (Q35R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465901	NM_001329615.2(SNAPC5):c.127A>G (p.Arg43Gly)	SNAPC5 (R5G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612825	NM_001329615.2(SNAPC5):c.125C>G (p.Ser42Cys)	SNAPC5 (S4C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237457	NM_001329615.2(SNAPC5):c.77T>C (p.Leu26Pro)	SNAPC5 (L26P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3321156	NM_001329615.2(SNAPC5):c.64C>G (p.Leu22Val)	SNAPC5 (L22V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3321155	NM_001329615.2(SNAPC5):c.58G>A (p.Ala20Thr)	SNAPC5 (A20T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531918	NM_001329615.2(SNAPC5):c.19G>A (p.Glu7Lys)	SNAPC5 (E7K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243835	NC_000015.9:g.(?_66780810)_(66782933_?)del	MAP2K1, SNAPC5	Deletion	RASopathy	GUncertain significance
Select item 2684761	GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3	DIS3L, MAP2K1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1410689	NC_000015.9:g.(?_66774083)_(66782963_?)dup	SNAPC5, MAP2K1	Duplication	RASopathy	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 999571	NC_000015.9:g.(?_66679676)_(66782963_?)dup	MAP2K1, SNAPC5	Duplication	RASopathy	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 90