ClinVar for MedGen (Select 371740) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989316	NM_005188.4(CBL):c.686A>T (p.Asp229Val)	CBL (D229V)	Single nucleotide variant (missense variant)	Noonan-like syndrome	GUncertain significance
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	Noonan-like syndrome	GPathogenic
Select item 368941	NM_005188.3(CBL):c.-157A>G	CBL, LOC130006894	Single nucleotide variant	Noonan-like syndrome	GLikely benign
Select item 302918	NM_005188.4(CBL):c.*8288GTTA[1]	CBL	Microsatellite (3 prime UTR variant)	Noonan-like syndrome	GLikely benign
Select item 302917	NM_005188.4(CBL):c.8164_8167del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302903	NM_005188.4(CBL):c.*7578TC[1]	CBL	Microsatellite (3 prime UTR variant)	Noonan-like syndrome +1 more	GBenign/Likely benign
Select item 302897	NM_005188.4(CBL):c.7170_7173del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302896	NM_005188.4(CBL):c.*7173del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302876	NM_005188.4(CBL):c.*5986del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GLikely benign
Select item 302871	NM_005188.4(CBL):c.*5771T>A	CBL	Single nucleotide variant (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302854	NM_005188.4(CBL):c.*4863dup	CBL	Duplication (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302833	NM_005188.4(CBL):c.*3241dup	CBL	Duplication (3 prime UTR variant)	Noonan-like syndrome	GLikely benign
Select item 302830	NM_005188.4(CBL):c.*3106del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302827	NM_005188.4(CBL):c.*2762dup	CBL	Duplication (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302819	NM_005188.4(CBL):c.*2129dup	CBL	Duplication (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302810	NM_005188.4(CBL):c.*1732del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302801	NM_005188.4(CBL):c.*1038del	CBL	Deletion (3 prime UTR variant)	Noonan-like syndrome	GLikely benign
Select item 302794	NM_005188.4(CBL):c.559_560insCAA	CBL	Insertion (3 prime UTR variant)	Noonan-like syndrome	GUncertain significance
Select item 302792	NM_005188.4(CBL):c.365_366insGG	CBL	Insertion (3 prime UTR variant)	Noonan-like syndrome	GBenign
Select item 302787	NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal)	CBL	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 302780	NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)	CBL (N454D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 302766	NM_005188.4(CBL):c.-125_-116delinsT	CBL, FRA11B +1 more	Indel	Noonan-like syndrome +2 more	GUncertain significance
Select item 302765	NM_005188.3(CBL):c.-126_-125insTGG	CBL, FRA11B +1 more	Insertion	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302764	NM_005188.3(CBL):c.-127_-125GGC[8]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 302763	NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG	CBL, FRA11B +1 more	Insertion	Noonan-like syndrome +1 more	GUncertain significance
Select item 302762	NM_005188.3(CBL):c.-126_-125insTGGCGG	CBL, FRA11B +1 more	Insertion	Noonan-like syndrome	GUncertain significance
Select item 302761	NM_005188.3(CBL):c.-127_-125GGC[15]	FRA11B, LOC130006894 +1 more	Microsatellite	Noonan-like syndrome	GUncertain significance
Select item 302760	NM_005188.3(CBL):c.-127_-125GGC[14]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 302759	NM_005188.3(CBL):c.-127_-125GGC[13]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 302758	NM_005188.3(CBL):c.-127_-125GGC[12]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 45199	NM_005188.4(CBL):c.1228-10dup	CBL	Duplication	Noonan-like syndrome +2 more	GBenign/Likely benign
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	Noonan syndrome and Noonan-related syndrome +7 more	GBenign/Likely benign

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Items: 32