"GeneDx"[submitter] AND "MAP2K2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 1220587	NM_030662.4(MAP2K2):c.*174C>A	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227853	NM_030662.4(MAP2K2):c.*24C>G	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 40848	NM_030662.4(MAP2K2):c.*24C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 388412	NM_030662.4(MAP2K2):c.*20G>A	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 138164	NM_030662.3(MAP2K2):c.*19C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 382115	NM_030662.4(MAP2K2):c.*14C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 46223	NM_030662.3(MAP2K2):c.*8C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	RASopathy	GLikely benign FDA Recognized database
Select item 383208	NM_030662.4(MAP2K2):c.*2A>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 40847	NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)	MAP2K2 (V400M)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 496470	NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 40846	NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1710619	NM_030662.4(MAP2K2):c.1192A>C (p.Thr398Pro)	MAP2K2 (T398P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697209	NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 180910	NM_030662.4(MAP2K2):c.1189C>T (p.Arg397Cys)	MAP2K2 (R397C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 279960	NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	MAP2K2 (T396M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 996277	NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 180909	NM_030662.4(MAP2K2):c.1180A>T (p.Thr394Ser)	MAP2K2 (T394S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 496472	NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 513229	NM_030662.4(MAP2K2):c.1167G>A (p.Leu389=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 40843	NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	MAP2K2 (R388W)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1308219	NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)	MAP2K2 (C384Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 50938	NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40842	NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)	MAP2K2 (R371Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 1334256	NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr)	MAP2K2 (I369T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 46228	NM_030662.4(MAP2K2):c.1093-6T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1194792	NM_030662.4(MAP2K2):c.1093-128G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561942	NM_030662.4(MAP2K2):c.1093-273C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196051	NM_030662.4(MAP2K2):c.1092+127G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514650	NM_030662.4(MAP2K2):c.1092A>G (p.Thr364=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 180908	NM_030662.4(MAP2K2):c.1085T>C (p.Met362Thr)	MAP2K2 (M362T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 261928	NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 46227	NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 422278	NM_030662.4(MAP2K2):c.1047-2dup	MAP2K2	Duplication (splice acceptor variant)	not provided	GLikely benign
Select item 373028	NM_030662.4(MAP2K2):c.1047-3C>T	MAP2K2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1209378	NM_030662.4(MAP2K2):c.1047-31G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561451	NM_030662.4(MAP2K2):c.1047-140_1047-139insG	MAP2K2	Insertion (intron variant)	not provided	GBenign
Select item 561446	NM_030662.4(MAP2K2):c.1047-212G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561820	NM_030662.4(MAP2K2):c.1047-279C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561918	NM_030662.4(MAP2K2):c.1046+303del	MAP2K2	Deletion (intron variant)	not provided	GLikely benign
Select item 561457	NM_030662.4(MAP2K2):c.1046+200C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561436	NM_030662.4(MAP2K2):c.1046+91_1046+92del	MAP2K2	Deletion (intron variant)	not provided	GLikely benign
Select item 506906	NM_030662.4(MAP2K2):c.1046+16C>A	MAP2K2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138163	NM_030662.4(MAP2K2):c.1046+13G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +1 more	GBenign/Likely benign
Select item 372940	NM_030662.4(MAP2K2):c.1039A>G (p.Asn347Asp)	MAP2K2 (N347D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 372640	NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile)	MAP2K2 (V346I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 138162	NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3364423	NM_030662.4(MAP2K2):c.1001C>G (p.Pro334Arg)	MAP2K2 (P334R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561450	NM_030662.4(MAP2K2):c.985-150C>G	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274940	NM_030662.4(MAP2K2):c.984+307C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269111	NM_030662.4(MAP2K2):c.984+235dup	MAP2K2	Duplication (intron variant)	not provided	GBenign
Select item 1245142	NM_030662.4(MAP2K2):c.984+251del	MAP2K2	Deletion (intron variant)	not provided	GBenign
Select item 1236940	NM_030662.4(MAP2K2):c.984+250_984+251del	MAP2K2	Deletion (intron variant)	not provided	GBenign
Select item 1257426	NM_030662.4(MAP2K2):c.984+33C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40840	NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GBenign/Likely benign
Select item 1188050	NM_030662.4(MAP2K2):c.974T>C (p.Ile325Thr)	MAP2K2 (I325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180907	NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys)	MAP2K2 (Y324C)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +2 more	GUncertain significance
Select item 424604	NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val)	MAP2K2 (I318V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 40839	NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	MAP2K2 (R313Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 280685	NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)	MAP2K2 (R313W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1254454	NM_030662.4(MAP2K2):c.928A>G (p.Met310Val)	MAP2K2 (M310V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198721	NM_030662.4(MAP2K2):c.924C>T (p.His308=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 391577	NM_030662.4(MAP2K2):c.920-17T>A	MAP2K2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1291241	NM_030662.4(MAP2K2):c.920-24A>G	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561819	NM_030662.4(MAP2K2):c.919+252C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221297	NM_030662.4(MAP2K2):c.919+37C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269985	NM_030662.4(MAP2K2):c.919+33C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279367	NM_030662.4(MAP2K2):c.919+31G>C	MAP2K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420458	NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG	MAP2K2	Indel (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 378903	NM_030662.4(MAP2K2):c.919+10G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 40834	NM_030662.4(MAP2K2):c.919+4C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 180903	NM_030662.4(MAP2K2):c.913G>A (p.Val305Ile)	MAP2K2 (V305I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1329638	NM_030662.4(MAP2K2):c.912C>T (p.Pro304=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1328854	NM_030662.4(MAP2K2):c.908G>T (p.Arg303Leu)	MAP2K2 (R303L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40833	NM_030662.4(MAP2K2):c.903C>T (p.Pro301=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 418790	NM_030662.4(MAP2K2):c.899_900insT (p.Gly302fs)	MAP2K2 (G302fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 516421	NM_030662.4(MAP2K2):c.894G>A (p.Pro298=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 40832	NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu)	MAP2K2 (P298L)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 285121	NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	MAP2K2 (R297Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 40831	NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp)	MAP2K2 (R297W)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 40830	NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu)	MAP2K2 (S295L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 503543	NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)	MAP2K2 (E288del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 40829	NM_030662.4(MAP2K2):c.856G>A (p.Gly286Arg)	MAP2K2 (G286R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40828	NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)	MAP2K2 (D285N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40827	NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40826	NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)	MAP2K2 (P282S)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 372632	NM_030662.4(MAP2K2):c.834C>G (p.Ile278Met)	MAP2K2 (I278M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 372931	NM_030662.4(MAP2K2):c.826G>C (p.Glu276Gln)	MAP2K2 (E276Q)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 138161	NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40825	NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40824	NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)	MAP2K2 (K273R)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 424075	NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)	MAP2K2 (A272T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 378108	NM_030662.4(MAP2K2):c.813C>T (p.Asp271=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 666425	NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)	MAP2K2 (D271N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179650	NM_030662.4(MAP2K2):c.810C>T (p.Pro270=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 180906	NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)	MAP2K2 (P269L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 177876	NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)	MAP2K2 (P269R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database

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