"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAP2K1"[g - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	RASopathy +4 more	GBenign
Select item 2631331	NM_002755.4(MAP2K1):c.15G>T (p.Lys5Asn)	MAP2K1 (K5N)	Single nucleotide variant (missense variant)	MAP2K1-related disorder	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 1130747	NM_002755.4(MAP2K1):c.80+9G>A	MAP2K1	Single nucleotide variant (intron variant)	MAP2K1-related disorder +1 more	GLikely benign
Select item 40782	NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GBenign/Likely benign
Select item 40783	NM_002755.4(MAP2K1):c.276G>C (p.Leu92=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GBenign/Likely benign
Select item 40784	NM_002755.4(MAP2K1):c.291+22G>C	MAP2K1	Single nucleotide variant	Cardiofaciocutaneous syndrome 3 +2 more	GBenign
Select item 216570	NM_002755.4(MAP2K1):c.292-3C>T	MAP2K1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 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 40749	NM_002755.4(MAP2K1):c.438+20C>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 40751	NM_002755.4(MAP2K1):c.439-8G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 138156	NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)	MAP2K1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 44590	NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 2635574	NM_002755.4(MAP2K1):c.672G>A (p.Val224=)	MAP2K1	Single nucleotide variant (synonymous variant)	MAP2K1-related disorder	GUncertain significance
Select item 94082	NM_002755.4(MAP2K1):c.694-12TC[4]	MAP2K1	Microsatellite (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40754	NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44591	NM_002755.4(MAP2K1):c.726G>T (p.Val242=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 44592	NM_002755.4(MAP2K1):c.804C>G (p.Ala268=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 2909239	NM_002755.4(MAP2K1):c.828G>A (p.Gly276=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 40756	NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)	MAP2K1 (A283V)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1003468	NM_002755.4(MAP2K1):c.904A>C (p.Met302Leu)	MAP2K1 (M302L)	Single nucleotide variant (missense variant)	MAP2K1-related disorder +2 more	GUncertain significance
Select item 40758	NM_002755.4(MAP2K1):c.927A>T (p.Ala309=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 50934	NM_002755.4(MAP2K1):c.957C>T (p.Asn319=)	MAP2K1	Single nucleotide variant (synonymous variant)	MAP2K1-related disorder +4 more	GLikely benign
Select item 258797	NM_002755.4(MAP2K1):c.1023-20C>T	MAP2K1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 40760	NM_002755.4(MAP2K1):c.1023-8C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 44586	NM_002755.4(MAP2K1):c.1068+12_1068+15del	MAP2K1, SNAPC5	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 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 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

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Items: 31