C0349639[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477714	NM_005188.4(CBL):c.6C>G (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 179790	NM_005188.4(CBL):c.12C>T (p.Asn4=)	LOC130006895, CBL	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GBenign/Likely benign
Select item 45209	NM_005188.4(CBL):c.513T>C (p.Ser171=)	CBL	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 45211	NM_005188.4(CBL):c.869+4A>G	CBL	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 55795	NM_005188.4(CBL):c.869+19A>G	CBL	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +3 more	GBenign
Select item 383007	NM_005188.4(CBL):c.873T>C (p.Tyr291=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 55796	NM_005188.4(CBL):c.1095+19G>T	CBL	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 13811	NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	CBL (Y371H)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic
Select item 45198	NM_005188.4(CBL):c.1227+4C>T	CBL	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 162834	NM_005188.4(CBL):c.1359A>C (p.Pro453=)	CBL	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +5 more	GBenign/Likely benign
Select item 45201	NM_005188.4(CBL):c.1485G>A (p.Pro495=)	CBL	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 302782	NM_005188.4(CBL):c.1629A>G (p.Pro543=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GBenign/Likely benign
Select item 45202	NM_005188.4(CBL):c.1641T>C (p.Pro547=)	CBL	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +6 more	GBenign/Likely benign
Select item 45203	NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	CBL (L620F)	Single nucleotide variant (missense variant)	CBL-related disorder +6 more	GBenign
Select item 136665	NM_005188.4(CBL):c.2190G>C (p.Thr730=)	CBL	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 40419	NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	CBL (A757T)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GBenign/Likely benign
Select item 40424	NM_005188.4(CBL):c.2484G>A (p.Pro828=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45208	NM_005188.4(CBL):c.2592C>T (p.Leu864=)	CBL	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 133813	NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	CBL (V904I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 40478	NM_002834.5(PTPN11):c.14+25G>C	PTPN11	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 40480	NM_002834.5(PTPN11):c.14+54C>A	PTPN11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 36708	NM_002834.5(PTPN11):c.255C>T (p.His85=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40515	NM_002834.5(PTPN11):c.486C>T (p.Asp162=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 40516	NM_002834.5(PTPN11):c.525+12G>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 178109	NM_002834.5(PTPN11):c.558G>T (p.Arg186=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40532	NM_002834.5(PTPN11):c.854-21C>T	PTPN11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 40538	NM_002834.5(PTPN11):c.990A>C (p.Thr330=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +5 more	GConflicting classifications of pathogenicity
Select item 40539	NM_002834.5(PTPN11):c.996C>T (p.Gly332=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 40541	NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)	PTPN11 (R351Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40542	NM_002834.5(PTPN11):c.1093-9C>A	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome 1 +7 more	GBenign
Select item 436446	NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 138839	NM_002834.5(PTPN11):c.1379+20C>T	PTPN11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 457784	NM_001042492.3(NF1):c.61-9T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GConflicting classifications of pathogenicity
Select item 237582	NM_001042492.3(NF1):c.624G>A (p.Ala208=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GLikely benign
Select item 184560	NM_001042492.3(NF1):c.1005T>C (p.Asn335=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 141819	NM_001042492.3(NF1):c.2022C>T (p.Ser674=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 184057	NM_001042492.3(NF1):c.2985G>C (p.Leu995=)	NF1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 186916	NM_001042492.3(NF1):c.6315C>T (p.His2105=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 220819	NM_001042492.3(NF1):c.7322-17C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +7 more	GBenign/Likely benign
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	not specified +9 more	GPathogenic

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Items: 41