ClinVar for MedGen (Select 815336) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256896	NM_002755.4(MAP2K1):c.147_149dup (p.Leu50_Glu51insLeu)	MAP2K1	Duplication (inframe_insertion)	Cardiofaciocutaneous syndrome 3	GLikely pathogenic
Select item 3237379	NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)	MAP2K1 (I168V +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 3066213	NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr)	MAP2K1 (A30T +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 2672171	NM_002755.4(MAP2K1):c.1023-4T>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 2577894	NM_002755.4(MAP2K1):c.568+4A>G	MAP2K1	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 2572546	NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)	MAP2K1 (M208T +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GLikely pathogenic
Select item 1697313	NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala)	MAP2K1 (P124A)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GLikely pathogenic
Select item 1634362	NM_002755.4(MAP2K1):c.693+20T>C	MAP2K1	Single nucleotide variant (intron variant)	Noonan syndrome 1 +3 more	GLikely benign
Select item 1328146	NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln)	MAP2K1 (E203Q)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GPathogenic
Select item 1299563	NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr)	MAP2K1 (P89T)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GLikely pathogenic
Select item 1297058	NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)	MAP2K1 (G128A)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GPathogenic
Select item 1053438	NM_002755.4(MAP2K1):c.516+1G>A	MAP2K1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 998038	NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	MAP2K1 (M143V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 834058	NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)	MAP2K1 (Q58H)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 636238	NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn)	MAP2K1 (Y130N)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GPathogenic
Select item 582017	NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)	MAP2K1 (P321S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 421851	NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA	MAP2K1	Indel (intron variant)	Melorheostosis +5 more	GLikely benign
Select item 375982	NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	MAP2K1 (E203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
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 280446	NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	MAP2K1 (R108L)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 228273	NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	MAP2K1 (N122D)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 222074	NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)	MAP2K1 (K59del)	Deletion (inframe_deletion)	RASopathy +1 more	GLikely pathogenic
Select item 190378	NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)	MAP2K1	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 44587	NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)	MAP2K1 (L42F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 40784	NM_002755.4(MAP2K1):c.291+22G>C	MAP2K1	Single nucleotide variant	not specified +2 more	GBenign
Select item 40782	NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
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 40749	NM_002755.4(MAP2K1):c.438+20C>T	MAP2K1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 40744	NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	MAP2K1 (P124L)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 40743	NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln)	MAP2K1 (P124Q)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +4 more	GPathogenic/Likely pathogenic
Select item 40742	NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)	MAP2K1 (P124T)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
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 13350	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	MAP2K1 (F53S)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database

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Items: 34