"GeneDx"[submitter] AND "MAP2K1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561817	NM_002755.3(MAP2K1):c.-767A>C	TIPIN, LOC130057338 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561873	NM_002755.3(MAP2K1):c.-695A>T	LOC130057338, MAP2K1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 561875	NM_002755.3(MAP2K1):c.-631C>T	MAP2K1, TIPIN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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 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 1317064	NM_002755.4(MAP2K1):c.42C>G (p.Ala14=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3338718	NM_002755.4(MAP2K1):c.65G>A (p.Gly22Glu)	MAP2K1 (G22E)	Single nucleotide variant (missense variant)	not provided	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 1317376	NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr)	MAP2K1 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385739	NM_002755.4(MAP2K1):c.80+14G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	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 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 1693032	NM_002755.4(MAP2K1):c.135G>T (p.Gln45His)	MAP2K1 (Q45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 13350	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	MAP2K1 (F53S)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic 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 1708637	NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met)	MAP2K1 (K35M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 222074	NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)	MAP2K1 (K59del)	Deletion (inframe_deletion)	RASopathy +1 more	GLikely pathogenic
Select item 372926	NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del)	MAP2K1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 378100	NM_002755.4(MAP2K1):c.177G>A (p.Lys59=)	MAP2K1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 40780	NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly)	MAP2K1 (V60G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372929	NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del)	MAP2K1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
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 1078549	NM_002755.4(MAP2K1):c.264G>A (p.Lys88=)	MAP2K1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
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 40783	NM_002755.4(MAP2K1):c.276G>C (p.Leu92=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GBenign/Likely benign
Select item 180896	NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)	MAP2K1 (V93I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421851	NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA	MAP2K1	Indel (intron variant)	not provided +5 more	GLikely benign
Select item 515007	NM_002755.4(MAP2K1):c.291+18A>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 40784	NM_002755.4(MAP2K1):c.291+22G>C	MAP2K1	Single nucleotide variant	not provided +2 more	GBenign
Select item 1227182	NM_002755.4(MAP2K1):c.291+127_291+129dup	MAP2K1	Duplication (intron variant)	not provided	GBenign
Select item 1178395	NM_002755.4(MAP2K1):c.291+128_291+129dup	MAP2K1	Duplication (intron variant)	not provided	GBenign
Select item 1229318	NM_002755.4(MAP2K1):c.291+199C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561383	NM_002755.4(MAP2K1):c.292-133A>C	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40785	NM_002755.4(MAP2K1):c.308T>G (p.Ile103Ser)	MAP2K1 (I103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 280446	NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	MAP2K1 (R108L)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 40741	NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)	MAP2K1 (H119Y)	Single nucleotide variant (missense variant)	MAP2K1-related rasopathy-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 375981	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	MAP2K1 (P124S)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 372636	NM_002755.4(MAP2K1):c.371C>G (p.Pro124Arg)	MAP2K1 (P124R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 509643	NM_002755.4(MAP2K1):c.378C>T (p.Ile126=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 40745	NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)	MAP2K1 (G128V)	Indel (missense variant)	RASopathy	GPathogenic
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 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 3338747	NM_002755.4(MAP2K1):c.395C>T (p.Ala132Val)	MAP2K1 (A110V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 40748	NM_002755.4(MAP2K1):c.396G>A (p.Ala132=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GBenign/Likely benign
Select item 180901	NM_002755.4(MAP2K1):c.412G>A (p.Glu138Lys)	MAP2K1 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338730	NM_002755.4(MAP2K1):c.424T>C (p.Cys142Arg)	MAP2K1 (C120R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704022	NM_002755.4(MAP2K1):c.438+1_438+5del	MAP2K1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 389759	NM_002755.4(MAP2K1):c.438+8A>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40749	NM_002755.4(MAP2K1):c.438+20C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 561434	NM_002755.4(MAP2K1):c.438+192C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205681	NM_002755.4(MAP2K1):c.439-168G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224838	NM_002755.4(MAP2K1):c.439-67C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383502	NM_002755.4(MAP2K1):c.439-19C>A	MAP2K1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 384908	NM_002755.4(MAP2K1):c.439-18T>C	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2430477	NM_002755.4(MAP2K1):c.488A>G (p.Glu163Gly)	MAP2K1 (E163G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318017	NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys)	MAP2K1 (Q164K)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1320746	NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg)	MAP2K1 (K168R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1053438	NM_002755.4(MAP2K1):c.516+1G>A	MAP2K1	Single nucleotide variant (splice donor variant +1 more)	Cardiofaciocutaneous syndrome 3 +2 more	GUncertain significance
Select item 372835	NM_002755.4(MAP2K1):c.516+2T>C	MAP2K1	Single nucleotide variant (splice donor variant +1 more)	not specified	GUncertain significance
Select item 1293728	NM_002755.4(MAP2K1):c.516+28A>G	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211803	NM_002755.4(MAP2K1):c.516+176A>G	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292067	NM_002755.4(MAP2K1):c.516+191G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561540	NM_002755.4(MAP2K1):c.516+230_516+231insAG	MAP2K1	Insertion (intron variant)	not provided	GBenign
Select item 1213350	NM_002755.4(MAP2K1):c.516+283G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561816	NM_002755.4(MAP2K1):c.517-311C>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561818	NM_002755.4(MAP2K1):c.517-253C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561628	NM_002755.4(MAP2K1):c.517-230A>C	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217440	NM_002755.4(MAP2K1):c.517-139G>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315731	NM_002755.4(MAP2K1):c.517-9T>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 380658	NM_002755.4(MAP2K1):c.517-4C>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1189400	NM_002755.4(MAP2K1):c.520A>G (p.Ile174Val)	MAP2K1 (I174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212589	NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely 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 378987	NM_002755.4(MAP2K1):c.568+9T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 391970	NM_002755.4(MAP2K1):c.568+11A>T	MAP2K1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1211049	NM_002755.4(MAP2K1):c.568+198C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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