"Ambry Genetics"[submitter] AND "LOC130006895"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1756606	NM_005188.4(CBL):c.6C>T (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 477714	NM_005188.4(CBL):c.6C>G (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +3 more	GLikely benign
Select item 179790	NM_005188.4(CBL):c.12C>T (p.Asn4=)	LOC130006895, CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1334223	NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	CBL, LOC130006895 (K6Q)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 1782288	NM_005188.4(CBL):c.18G>T (p.Lys6Asn)	CBL, LOC130006895 (K6N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 543978	NM_005188.4(CBL):c.23G>A (p.Ser8Asn)	CBL, LOC130006895 (S8N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2452996	NM_005188.4(CBL):c.31G>T (p.Ala11Ser)	CBL, LOC130006895 (A11S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729948	NM_005188.4(CBL):c.32C>G (p.Ala11Gly)	CBL, LOC130006895 (A11G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1145334	NM_005188.4(CBL):c.33C>T (p.Ala11=)	LOC130006895, CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2525642	NM_005188.4(CBL):c.59C>T (p.Ser20Leu)	CBL, LOC130006895 (S20L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 513893	NM_005188.4(CBL):c.60G>T (p.Ser20=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1756064	NM_005188.4(CBL):c.68G>C (p.Gly23Ala)	CBL, LOC130006895 (G23A)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1757658	NM_005188.4(CBL):c.71G>C (p.Gly24Ala)	CBL, LOC130006895 (G24A)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	Noonan syndrome and Noonan-related syndrome +8 more	GBenign/Likely benign
Select item 1625023	NM_005188.4(CBL):c.108C>T (p.His36=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2482600	NM_005188.4(CBL):c.115C>T (p.His39Tyr)	CBL, LOC130006895 (H39Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 544015	NM_005188.4(CBL):c.120C>T (p.His40=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1752714	NM_005188.4(CBL):c.121C>T (p.His41Tyr)	CBL, LOC130006895 (H41Y)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 180818	NM_005188.4(CBL):c.125A>T (p.His42Leu)	CBL, LOC130006895 (H42L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1770107	NM_005188.4(CBL):c.132C>T (p.Ser44=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2567305	NM_005188.4(CBL):c.136C>A (p.His46Asn)	CBL, LOC130006895 (H46N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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Items: 21