MAP kinase kinase 3 - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 419926	NM_000388.4(CASR):c.566A>G (p.Asn189Ser)	CASR (N189S)	Single nucleotide variant (missense variant)	Hypercalcemia +4 more	GUncertain significance
Select item 859953	NM_000388.4(CASR):c.788C>T (p.Thr263Met)	CASR (T263M)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 1680088	NM_000142.5(FGFR3):c.1584G>C (p.Met528Ile)	FGFR3 (M416I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 2537742	NM_001376571.1(MADD):c.81C>A (p.Ser27Arg)	MADD (S27R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3121980	NM_001376571.1(MADD):c.107G>A (p.Arg36Gln)	MADD (R36Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3292554	NM_001376571.1(MADD):c.188G>T (p.Ser63Ile)	MADD (S63I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2246541	NM_001376571.1(MADD):c.199C>T (p.Arg67Trp)	MADD (R67W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2410869	NM_001376571.1(MADD):c.233T>C (p.Val78Ala)	MADD (V10A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271297	NM_001376571.1(MADD):c.295C>T (p.Arg99Cys)	MADD (R31C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1335068	NM_001376571.1(MADD):c.417C>G (p.Gly139=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2349368	NM_001376571.1(MADD):c.469C>T (p.Pro157Ser)	MADD (P157S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352754	NM_001376571.1(MADD):c.473G>A (p.Arg158Gln)	MADD (R90Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292541	NM_001376571.1(MADD):c.484C>T (p.Arg162Trp)	MADD (R94W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407168	NM_001376571.1(MADD):c.508C>T (p.Arg170Cys)	MADD (R170C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1209130	NM_001376571.1(MADD):c.509G>A (p.Arg170His)	MADD (R102H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2294730	NM_001376571.1(MADD):c.592C>T (p.Arg198Cys)	MADD (R198C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329159	NM_001376571.1(MADD):c.673C>T (p.Arg225Trp)	MADD (R157W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292544	NM_001376571.1(MADD):c.740T>C (p.Ile247Thr)	MADD (I179T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978083	NM_001376571.1(MADD):c.914G>T (p.Gly305Val)	MADD (G305V +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GPathogenic
Select item 3122008	NM_001376571.1(MADD):c.922G>A (p.Ala308Thr)	MADD (A240T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122009	NM_001376571.1(MADD):c.946A>G (p.Ile316Val)	MADD (I248V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122010	NM_001376571.1(MADD):c.949C>G (p.Leu317Val)	MADD (L95V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978085	NM_001376571.1(MADD):c.963+1G>A	MADD	Single nucleotide variant (splice donor variant)	Deeah syndrome	GPathogenic
Select item 418287	NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)	MADD (R327* +2 more)	Single nucleotide variant (nonsense +1 more)	MADD-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 806671	NM_001376571.1(MADD):c.994C>T (p.Leu332Phe)	MADD (L264F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806672	NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)	MADD (L346P +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome +2 more	GConflicting classifications of pathogenicity
Select item 978082	NM_001376571.1(MADD):c.1061C>T (p.Pro354Leu)	MADD (P354L +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	GPathogenic
Select item 1701714	NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe)	MADD (C426F +2 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1175794	NM_001376571.1(MADD):c.2096G>A (p.Arg699His)	MADD (R477H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 872378	NM_001376571.1(MADD):c.2411G>A (p.Arg804Gln)	MADD (R804H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 978087	NM_001376571.1(MADD):c.3637_3638del (p.Asp1212_Ser1213insTer)	MADD	Deletion (nonsense +2 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	GPathogenic
Select item 493092	NM_001376571.1(MADD):c.3760-2A>C	MADD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1699228	NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)	MADD (L1089* +48 more)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	GPathogenic
Select item 424976	NM_001376571.1(MADD):c.4293G>A (p.Trp1431Ter)	MADD (W1431* +49 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1330502	NM_001376571.1(MADD):c.4402C>T (p.Arg1468Cys)	MADD (R1187C +50 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3053204	NM_001376571.1(MADD):c.4849-7C>T	MADD	Single nucleotide variant (intron variant)	MADD-related disorder	GLikely benign
Select item 2242508	NM_001376571.1(MADD):c.4853A>C (p.His1618Pro)	MADD (H1503P +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3365253	NM_001376571.1(MADD):c.4870G>A (p.Val1624Ile)	MADD (V1340I +39 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3122005	NM_001376571.1(MADD):c.4886C>T (p.Ser1629Leu)	MADD (S1493L +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2433600	NM_001376571.1(MADD):c.4887G>T (p.Ser1629=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2523974	NM_001376571.1(MADD):c.4930C>G (p.Pro1644Ala)	MADD (P1491A +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3122006	NM_001376571.1(MADD):c.4931C>T (p.Pro1644Leu)	MADD (P1529L +39 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2641765	NM_001376571.1(MADD):c.4932G>A (p.Pro1644=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2433599	NM_001376571.1(MADD):c.4952G>T (p.Ter1651Leu)	MADD	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 219024	GRCh37/hg19 11p11.2(chr11:47310499-47351543)x3	MADD	Copy number gain	See cases	GUncertain significance
Select item 13333	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11 (Y63C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40747	NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	MAP2K1 (Y130H)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic FDA Recognized database
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +6 more	GConflicting classifications of pathogenicity
Select item 666272	NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)	MAP2K2 (P128L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9993	NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	L1CAM (S1194L +2 more)	Single nucleotide variant (missense variant)	Severe hydrocephalus +4 more	GPathogenic/Likely pathogenic
Select item 978084	NM_003682.4:c.(1862+1_1863-1)_(3759+1_3760-1)del	MADD	Deletion	Deeah syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76